Microcephaly 1, Primary, Autosomal Recessive; Mcph1

Description

Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. MCPH is associated with a simplification of the cerebral cortical gyral pattern and a slight reduction in the volume of the white matter, consistent with the small size of the brain, but the architecture of the brain in general is normal, with no evidence of a neuronal migration defect (review by Woods et al., 2005).Most cases of primary microcephaly show an autosomal recessive mode of inheritance. Because MCPH directly affects neurogenesis, or neurogenic mitosis, rather than growth of the skull, some prefer the term 'micrencephaly' (Hofman, 1984).MCPH1 in particular is associated with premature chromosome condensation in cell studies (Darvish et al., 2010). Genetic Heterogeneity of Primary MicrocephalyPrimary microcephaly is a genetically heterogeneous disorder. See MCPH2 (OMIM ), caused by mutation in the WDR62 gene (OMIM ) on chromosome 19q13; MCPH3 (OMIM ), caused by mutation in the CDK5RAP2 gene (OMIM ) on 9q33; MCPH4 (OMIM ), caused by mutation in the CASC5 gene (OMIM ) on 15q14; MCPH5 (OMIM ), caused by mutation in the ASPM gene (OMIM ) on 1q; MCPH6 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on 13q12; MCPH7 (OMIM ), caused by mutation in the STIL gene (OMIM ) on 1p33; MCPH8 (OMIM ), caused by mutation in the CEP135 gene (OMIM ) on 4q12; MCPH9 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on 15q21; MCPH10 (OMIM ), caused by mutation in the ZNF335 gene (OMIM ) on 20q13; MCPH11 (OMIM ), caused by mutation in the PHC1 gene (OMIM ) on 12p13; MCPH12 (OMIM ), caused by mutation in the CDK6 gene (OMIM ) on 7q21; MCPH13 (OMIM ), caused by mutation in the CENPE gene (OMIM ) on 4q24; MCPH14 (OMIM ), caused by mutation in the SASS6 gene (OMIM ) on 1p21; MCPH15 (OMIM ), caused by mutation in the MFSD2A gene (OMIM ) on 1p34; MCPH16 (OMIM ), caused by mutation in the ANKLE2 gene (OMIM ) on 12q24; MCPH17 (OMIM ), caused by mutation in the CIT gene (OMIM ) on 12q24; MCPH18 (OMIM ), caused by mutation in the WDFY3 gene (OMIM ) on 4q21; and MCPH19 (OMIM ), caused by mutation in the COPB2 gene (OMIM ) on 3q23.

Clinical Features

Top most frequent phenotypes and symptoms related to Microcephaly 1, Primary, Autosomal Recessive; Mcph1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Ptosis
  • Hyperreflexia
  • Ventriculomegaly
And another 20 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Microcephaly 1, Primary, Autosomal Recessive; Mcph1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Microcephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBGCP6, ASXL3, TUBGCP4, PYCR2, CRIPT, PLK4, ORC4, ORC6, CDT1, CDC6, ORC1, TRAPPC9, CEP63, KNL1, CEP135, ZNF335, CDK6, PHC1, CENPE, MFSD2A , (...)

View the complete list with 50 more genes
Specificity
22 %
Genes
66 %
Microcephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

SLC1A4, PPP1R15B, USP18, TUBGCP6, ASXL3, TUBGCP4, PYCR2, CRIPT, PLK4, ORC4, ORC6, CDT1, CDC6, ORC1, NIN, TRAPPC9, CEP63, KNL1, CEP135, ZNF335 , (...)

View the complete list with 59 more genes
Specificity
21 %
Genes
70 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...)

View the complete list with 847 more genes
Specificity
2 %
Genes
53 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
5 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

TBCK, NADK2, PLEKHG2, VPS11, ISCA2, DARS, AIMP1, PEX11B, COL4A2, FAM126A, PSAT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, SLC25A1, IBA57, HEPACAM , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
5 %
Leukodystrophy / Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

TBCK, PLEKHG2, VPS11, DARS, AIMP1, PEX11B, FAM126A, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, HEPACAM, EARS2, TREM2, CSF1R, CTC1, RNASET2, ADAR , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
5 %
PYCR2.

By Fulgent Genetics Fulgent Genetics in United States.

PYCR2
Specificity
100 %
Genes
5 %
Leukodystrophy and Leukoencephalopathy Panel.

By Blueprint Genetics in Finland.

SNORD118, MRPL44, LYRM7, DARS, AIMP1, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RNF216, RARS, SERAC1, PYCR2, IBA57, HEPACAM, EARS2, CSF1R, SCO1, MARS2 , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
5 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
5 %
Joubert/Meckel-Gruber syndrome Panel.

By Genetic Services Laboratory University of Chicago in United States.

CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
5 %
Meckel Gruber Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CSPP1, KIF14, TMEM107, TCTN3, B9D2, RPGRIP1L, TCTN2, B9D1, TMEM231, TMEM216, MKS1, CEP290, NPHP3, TMEM67, CC2D2A
Specificity
7 %
Genes
5 %
Renal Cystic Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

REN, MUC1, CRB2, BMPER, ANKS6, CEP83, CEP164, CSPP1, PDE6D, KIF14, TMEM107, CEP104, KIAA0556, IFT172, TCTN3, NOTCH2, GLIS3, B9D2, ARL13B, GLIS2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
5 %
Meckel Gruber Syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

CSPP1, KIF14, TMEM107, TCTN3, B9D2, RPGRIP1L, TCTN2, B9D1, TMEM231, TMEM216, MKS1, CEP290, NPHP3, TMEM67, CC2D2A
Specificity
7 %
Genes
5 %
Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
5 %
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ZNF423, CSPP1, PDE6D, KIF14, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, TMEM231, OFD1, AHI1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
5 %
Ciliopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, TCTN3, CFAP53, B9D2, ACVR2B, LEFTY2, ARL13B, GLIS2, CPLANE1, CEP41, GDF1, KIF7, NEK8, RPGRIP1L , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
5 %
Joubert syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
5 %
Joubert syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
5 %
Joubert syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
5 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
5 %
KIF14.

By Fulgent Genetics Fulgent Genetics in United States.

KIF14
Specificity
100 %
Genes
5 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
5 %
Ciliopathy Panel.

By Blueprint Genetics in Finland.

ARMC9, TRAF3IP1, DYNC2LI1, KIAA0753, MAPKBP1, IFT81, DDX59, HYLS1, CRB2, WDR60, NEK1, CCNQ, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
5 %
Meckel Syndrome Panel.

By Blueprint Genetics in Finland.

KIF14, TMEM107, B9D2, RPGRIP1L, TCTN2, B9D1, TMEM231, TMEM216, MKS1, CEP290, NPHP3, TMEM67, CC2D2A
Specificity
8 %
Genes
5 %
ANGPT2.

By Fulgent Genetics Fulgent Genetics in United States.

ANGPT2
Specificity
100 %
Genes
5 %
Primary Microcephaly Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

ASPM, MCPH1, WDR62
Specificity
100 %
Genes
14 %
MCPH1 Sequencing Test.

By Athena Diagnostics Inc in United States.

MCPH1
Specificity
100 %
Genes
5 %
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc in United States.

TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1 , (...)

View the complete list with 20 more genes
Specificity
13 %
Genes
22 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...)

View the complete list with 214 more genes
Specificity
3 %
Genes
22 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR , (...)

View the complete list with 125 more genes
Specificity
5 %
Genes
31 %
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...)

View the complete list with 86 more genes
Specificity
7 %
Genes
31 %
Epilepsy/Seizure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PSPH, PCBD1, ZEB2, CASK, OPHN1, SYN1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, DNAJC5, ADGRG1, PAFAH1B1 , (...)

View the complete list with 78 more genes
Specificity
4 %
Genes
14 %
Microcephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MYCN, RBBP8, IER3IP1, RAB18, RAB3GAP2, ATR, PCNT, CDK5RAP2, CEP152, ZEB2, CASK, ATRX, TCF4, STIL, RAB3GAP1, CENPJ, ASPM, MCPH1, NIPBL, WDR62 , (...)

View the complete list with 8 more genes
Specificity
25 %
Genes
31 %
MCPH1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

MCPH1
Specificity
100 %
Genes
5 %
Autosomal Recessive Primary Microcephaly Tier 2 panel.

By Genetic Services Laboratory University of Chicago in United States.

CEP63, KNL1, CEP135, ZNF335, CDK6, PHC1, CENPE, MFSD2A, SASS6, AGMO, CIT, MED17, STAMBP, CENPF, CDK5RAP2, CEP152, PNKP, STIL, NDE1, CENPJ , (...)

View the complete list with 4 more genes
Specificity
59 %
Genes
61 %
MCPH1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

MCPH1
Specificity
100 %
Genes
5 %
MCPH1 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

MCPH1
Specificity
100 %
Genes
5 %
MCPH1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MCPH1
Specificity
100 %
Genes
5 %
Primary Autosomal Recessive Microcephaly type 1 (sequence analysis of MCPH1 gene).

By CGC Genetics in Portugal.

MCPH1
Specificity
100 %
Genes
5 %
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).

By CGC Genetics in Portugal.

VPS53, CLP1, BUB1B, TUBGCP6, SEPSECS, AMPD2, NIN, CEP63, KNL1, CEP135, ZNF335, MED17, KIF2A, KIF5C, TUBG1, LIG4, NHEJ1, RBBP8, IER3IP1, EFTUD2 , (...)

View the complete list with 32 more genes
Specificity
20 %
Genes
44 %
Primary Microcephaly, Autosomal Recessive, via the MCPH1 Gene.

By PreventionGenetics PreventionGenetics in United States.

MCPH1
Specificity
100 %
Genes
5 %
Primary Microcephaly, Autosomal Recessive, Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

KNL1, CEP135, CIT, CDK5RAP2, CEP152, STIL, CENPJ, ASPM, MCPH1, WDR62
Specificity
100 %
Genes
44 %
Microcephaly.

By Institute of Human Genetics Cologne University in Germany.

CEP63, KNL1, CEP135, ZNF335, CDK5RAP2, CEP152, PNKP, STIL, CENPJ, ASPM, MCPH1, WDR62
Specificity
84 %
Genes
44 %
Microcephaly, primary, autosomal recessive type I.

By Centogene AG - the Rare Disease Company in Germany.

MCPH1
Specificity
100 %
Genes
5 %
Microcephaly panel.

By Centogene AG - the Rare Disease Company in Germany.

MSMO1, NR2E1, TUBGCP6, CEP63, CEP135, NHEJ1, AKT3, IER3IP1, EFTUD2, KIF11, AP4M1, PCNT, CDK5RAP2, CEP152, CASK, PNKP, TUBB2B, STIL, PAFAH1B1, NDE1 , (...)

View the complete list with 7 more genes
Specificity
34 %
Genes
40 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
44 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...)

View the complete list with 494 more genes
Specificity
2 %
Genes
31 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...)

View the complete list with 494 more genes
Specificity
2 %
Genes
31 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By CeGaT GmbH in Germany.

BUB1B, SEPSECS, NIN, CEP63, KNL1, CEP135, ZNF335, MED17, KIF2A, KIF5C, TUBG1, RBBP8, STAMBP, CHMP1A, ATR, PCNT, CDK5RAP2, CEP152, TSEN2, TSEN34 , (...)

View the complete list with 16 more genes
Specificity
28 %
Genes
44 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By CeGaT GmbH in Germany.

BUB1B, SEPSECS, NIN, CEP63, KNL1, CEP135, ZNF335, MED17, KIF2A, KIF5C, TUBG1, RBBP8, STAMBP, CHMP1A, ATR, PCNT, CDK5RAP2, CEP152, TSEN2, TSEN34 , (...)

View the complete list with 16 more genes
Specificity
28 %
Genes
44 %
Microcephaly.

By Asper Biogene Asper Biogene LLC in Estonia.

TUBGCP6, CEP63, KNL1, CEP135, NHEJ1, IER3IP1, EFTUD2, KIF11, AP4M1, PCNT, CDK5RAP2, CEP152, CASK, PNKP, TUBB2B, STIL, PAFAH1B1, NDE1, CENPJ, ASPM , (...)

View the complete list with 4 more genes
Specificity
42 %
Genes
44 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

CLP1, TUBGCP6, SEPSECS, AMPD2, CEP63, KNL1, CEP135, LAMB1, SNAP29, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, RTTN, TBC1D20, CCND2, ZNF423, OCLN, TCTN3 , (...)

View the complete list with 125 more genes
Specificity
7 %
Genes
44 %
Microcephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CEP63, KNL1, CEP135, CDK6, RBBP8, ATR, CDK5RAP2, CEP152, STIL, CENPJ, ASPM, MCPH1, WDR62
Specificity
85 %
Genes
48 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...)

View the complete list with 90 more genes
Specificity
5 %
Genes
22 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7 , (...)

View the complete list with 144 more genes
Specificity
7 %
Genes
44 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...)

View the complete list with 87 more genes
Specificity
5 %
Genes
22 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...)

View the complete list with 323 more genes
Specificity
3 %
Genes
31 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
14 %
Microcephaly NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MSMO1, NR2E1, BUB1B, TUBGCP6, CEP63, CEP135, MED17, LIG4, NHEJ1, AKT3, IER3IP1, EFTUD2, KIF11, PCNT, CDK5RAP2, CEP152, TSEN2, TSEN34, CASK, PNKP , (...)

View the complete list with 15 more genes
Specificity
23 %
Genes
35 %
MCPH1.

By Fulgent Genetics Fulgent Genetics in United States.

MCPH1
Specificity
100 %
Genes
5 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...)

View the complete list with 427 more genes
Specificity
2 %
Genes
31 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By Blueprint Genetics in Finland.

WDR73, TUBGCP6, TUBGCP4, SEPSECS, AMPD2, PLK4, XRCC4, CEP63, MFSD2A, KATNB1, RTTN, LIG4, NHEJ1, AKT3, MYCN, EFTUD2, KIF11, STAMBP, CENPF, ATR , (...)

View the complete list with 28 more genes
Specificity
19 %
Genes
40 %
Autosomal recessive primary microcephaly type 1.

By Bioarray in Spain.

MCPH1
Specificity
100 %
Genes
5 %
PRIMARY MICROCEPHALY (AUTOSOMAL RECESSIVE) (VERA MICROCEPHALY).

By Laboratorio de Genetica Clinica SL in Spain.

KNL1, CEP135, CDK6, PHC1, SASS6, CDK5RAP2, CEP152, STIL, CENPJ, ASPM, MCPH1, WDR62
Specificity
100 %
Genes
53 %
Autosomal Recessive Primary Microcephaly Type 1 , Sequencing MCPH1 Gene.

By Reference Laboratory Genetics in Spain.

MCPH1
Specificity
100 %
Genes
5 %
Autosomal Recessive Primary Microcephaly , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

KNL1, CEP135, CDK6, CDK5RAP2, CENPJ, ASPM, MCPH1, WDR62
Specificity
100 %
Genes
35 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
9 %
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ATRIP, NIN, CEP63, KNL1, CEP135, CDK6, PHC1, RBBP8, ATR, CDK5RAP2, CEP152, STIL, CENPJ, ASPM, MCPH1, WDR62
Specificity
75 %
Genes
53 %
ASPM Sequencing Test.

By Athena Diagnostics Inc in United States.

ASPM
Specificity
100 %
Genes
5 %
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc in United States.

BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
5 %
ASPM sequencing.

By Genetic Services Laboratory University of Chicago in United States.

ASPM
Specificity
100 %
Genes
5 %
ASPM deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

ASPM
Specificity
100 %
Genes
5 %
ASPM.

By Institute for Human Genetics University Clinic Freiburg in Germany.

ASPM
Specificity
100 %
Genes
5 %
Autism/Intellectual Disability/Multiple Anomalies.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ERCC8, RPGRIP1L, AVPR1A, BDNF, SLC6A4, ERCC6, SPRED1, RPS6KA3, NLGN3, NLGN4X, HOXA1, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, SHANK2, SHANK3 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
5 %
ASPM mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

ASPM
Specificity
100 %
Genes
5 %
ASPM. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ASPM
Specificity
100 %
Genes
5 %
Microcephaly, primary AR (deletion/duplication analysis of ASPM gene).

By CGC Genetics in Portugal.

ASPM
Specificity
100 %
Genes
5 %
Primary Autosomal Recessive Microcephaly type 5 (sequence analysis of ASPM gene).

By CGC Genetics in Portugal.

ASPM
Specificity
100 %
Genes
5 %
Primary Microcephaly, Autosomal Recessive, via ASPM Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ASPM
Specificity
100 %
Genes
5 %
Neuronal Migration with Microcephaly.

By MGZ Medical Genetics Center in Germany.

CDK5RAP2, CEP152, STIL, CENPJ, ASPM, WDR62
Specificity
100 %
Genes
27 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...)

View the complete list with 246 more genes
Specificity
3 %
Genes
27 %
Microcephaly, primary, autosomal recessive type 5.

By Centogene AG - the Rare Disease Company in Germany.

ASPM
Specificity
100 %
Genes
5 %
Single gene testing ASPM.

By CeGaT GmbH in Germany.

ASPM
Specificity
100 %
Genes
5 %
Primary Autosomal Recessive Microcephaly Type 5.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

ASPM
Specificity
100 %
Genes
5 %
Microcephaly 5, primary, autosomal recessive (MCPH5, ASPM).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

ASPM
Specificity
100 %
Genes
5 %
Microcephaly 5, Primary autosomal recessive: ASPM gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ASPM
Specificity
100 %
Genes
5 %
ASPM.

By Fulgent Genetics Fulgent Genetics in United States.

ASPM
Specificity
100 %
Genes
5 %
Microcephaly 5, primary, autosomal recessive.

By Bioarray in Spain.

ASPM
Specificity
100 %
Genes
5 %
Autosomal Recessive Primary Microcephaly Type 5 , Sequencing ASPM Gene.

By Reference Laboratory Genetics in Spain.

ASPM
Specificity
100 %
Genes
5 %
Autosomal Recessive Primary Microcephaly Type 5 , Deletions-Duplications (MLPA) ASPM Gene.

By Reference Laboratory Genetics in Spain.

ASPM
Specificity
100 %
Genes
5 %
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes.

By Reference Laboratory Genetics in Spain.

LAMB1, OCLN, AKT3, PIK3R2, VLDLR, PIK3CA, GPSM2, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN , (...)

View the complete list with 18 more genes
Specificity
6 %
Genes
9 %
CDK6.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CDK6
Specificity
100 %
Genes
5 %
Custom solid tumor gene sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

RAC1, RICTOR, EIF1AX, HOXD8, ERBB4, CDKN2B, ERBB2, DDB2, CCND1, XPC, KDR, ERCC5, PDGFRB, CDK6, AKT1, GNA11, PDGFRA, SF3B1, EGFR, GNAQ , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
5 %
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company in Germany.

MYCL, ROS1, RPTOR, KIF5B, GNAI2, GNA13, EML4, BRD4, ARAF, NFE2L2, GNG2, KEAP1, NRG1, CCNE1, CD74, RICTOR, ERBB4, MYC, BCL6, SMO , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
5 %
CDK6.

By Fulgent Genetics Fulgent Genetics in United States.

CDK6
Specificity
100 %
Genes
5 %
Solid Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BCL2L1, H3F3A, KLF4, TRAF7, PIK3C2B, HIST1H3B, JAK1, MCL1, PBRM1, DAXX, CDKN1A, MYB, MYBL1, RAD54B, ESR2, ESR1, KMT2C, FGFR4, ROS1, NFE2L2 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
5 %
Breast Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

RAD54B, ESR2, ESR1, RAC1, ERBB4, ERBB2, KDR, CDK6, PIK3R1, AKT1, FBXW7, IDH1, EGFR, PIK3CA, FANCA, KIT, ERBB3, GATA3, FGFR1, BRIP1 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
5 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2 , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
5 %
Guardant360.

By Guardant Health in United States.

MAPK3, RHOA, RHEB, MAPK1, ESR1, NTRK3, ROS1, ARAF, NFE2L2, CCNE1, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, CCND2, AKT1, GNA11, FBXW7 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
5 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5 , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
5 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
14 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

NKX2-8, RHOA, BCL2L1, ETV4, ETV1, GAS6, RPS6KB1, RHEB, SPOP, TIAF1, XPO1, ZNF217, JAK1, KNSTRN, IFITM1, APEX1, ATP11B, MDM4, BCL9, BIRC2 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
5 %
Solid Tumor Targeted Mutation and Fusion Panel.

By Providence Regional Laboratories Providence Health and Services in United States.

ETV1, JAK1, ERG, ESR1, FGFR4, NTRK3, ROS1, ERBB4, AXL, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, NTRK2, AKT1, AKT3, GNA11, IDH1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
5 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
5 %
COPB2.

By Fulgent Genetics Fulgent Genetics in United States.

COPB2
Specificity
100 %
Genes
5 %
WDR62 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

WDR62
Specificity
100 %
Genes
5 %
WDR62 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

WDR62
Specificity
100 %
Genes
5 %
WDR62 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

WDR62
Specificity
100 %
Genes
5 %
WDR62 Sequencing Test.

By Athena Diagnostics Inc in United States.

WDR62
Specificity
100 %
Genes
5 %
WDR62 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

WDR62
Specificity
100 %
Genes
5 %
Polymicrogyria Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RTTN, TBC1D20, AKT3-IT1, CCND2, OCLN, RAB18, RAB3GAP2, GPSM2, KIF1BP, TUBB2B, ADGRG1, TUBA8, RAB3GAP1, NDE1, WDR62, TUBA1A, TUBB3
Specificity
6 %
Genes
5 %
Cerebral Cortical Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RTTN, OCLN, VLDLR, RAB18, RAB3GAP2, LAMC3, ACTG1, ACTB, KIF1BP, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN, RAB3GAP1, DCX, LARGE1, POMT1, POMT2, FKRP , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
5 %
Cerebral Cortical Malformation Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SNAP29, ASNS, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, B3GNT2, RTTN, TBC1D20, CCND2, OCLN, AKT3, VLDLR, RAB18, RAB3GAP2, TUBB4A, GMPPB , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
5 %
Polymicrogyria Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

RTTN, TBC1D20, AKT3-IT1, CCND2, OCLN, RAB18, RAB3GAP2, GPSM2, KIF1BP, TUBB2B, ADGRG1, TUBA8, RAB3GAP1, NDE1, WDR62, TUBA1A, TUBB3
Specificity
6 %
Genes
5 %
WDR62 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

WDR62
Specificity
100 %
Genes
5 %
Cerebral Cortical Malformations Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

SNAP29, ASNS, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, B3GNT2, RTTN, TBC1D20, CCND2, OCLN, AKT3, VLDLR, RAB18, RAB3GAP2, TUBB4A, GMPPB , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
5 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
5 %
WDR62.

By Institute for Human Genetics University Clinic Freiburg in Germany.

WDR62
Specificity
100 %
Genes
5 %
Lissencephaly Panel.

By GeneDx in United States.

LAMB1, VLDLR, GMPPB, ACTG1, ACTB, PAFAH1B1, RELN, NDE1, DCX, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, ISPD, POMT1, POMT2, FKRP, POMGNT1, FKTN , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
5 %
WDR62 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

WDR62
Specificity
100 %
Genes
5 %
Primary Autosomal Recessive Microcephaly type 2 (sequence analysis of WDR62 gene).

By CGC Genetics in Portugal.

WDR62
Specificity
100 %
Genes
5 %
Primary Autosomal Recessive Microcephaly type 2 (duplication of exon 1 of WDR62 gene).

By CGC Genetics in Portugal.

WDR62
Specificity
100 %
Genes
5 %
Primary Microcephaly, Autosomal Recessive, via WDR62 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

WDR62
Specificity
100 %
Genes
5 %
Lissencephaly and related disorders NGS test.

By Connective Tissue Gene Tests in United States.

TMTC3, LAMB1, SNAP29, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, TUBB2A, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
5 %
Lissencephaly and related disorders Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

TMTC3, LAMB1, SNAP29, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, TUBB2A, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
5 %
Lissencephaly and related disorders Comprehensive test.

By Connective Tissue Gene Tests in United States.

TMTC3, LAMB1, SNAP29, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, TUBB2A, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
5 %
Polymicrogyria.

By MGZ Medical Genetics Center in Germany.

KIF5C, TUBB, OCLN, EOMES, GPSM2, NSDHL, KIF1BP, TUBB2B, SRPX2, ADGRG1, TUBA8, NDE1, WDR62, CHD7, TUBA1A, FH, TUBB3
Specificity
6 %
Genes
5 %
Microcephaly with cortical malformations, autosomal recessive type 2a.

By Centogene AG - the Rare Disease Company in Germany.

WDR62
Specificity
100 %
Genes
5 %
Microcephaly 2, primary, autosomal recessive, with cortical malformations.

By Centogene AG - the Rare Disease Company in Germany.

WDR62
Specificity
100 %
Genes
5 %
Microcephaly 2, primary, autosomal recessive, with cortical malformations.

By Centogene AG - the Rare Disease Company in Germany.

WDR62
Specificity
100 %
Genes
5 %
Neuronal Migration Disorders Panel.

By CeGaT GmbH in Germany.

DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
5 %
Neuronal Migration Disorders Panel.

By CeGaT GmbH in Germany.

DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
5 %
Single gene testing WDR62.

By CeGaT GmbH in Germany.

WDR62
Specificity
100 %
Genes
5 %
Brain Malformations: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
5 %
Brain Malformations: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
5 %
WDR62.

By Fulgent Genetics Fulgent Genetics in United States.

WDR62
Specificity
100 %
Genes
5 %
Polymicrogyria Panel.

By Blueprint Genetics in Finland.

OCLN, AKT3, RAB18, GPSM2, TUBB2A, NSDHL, LAMC3, KIF1BP, TUBB2B, SRPX2, ADGRG1, TUBA8, NDE1, WDR62, TUBA1A, FH, TUBB3
Specificity
6 %
Genes
5 %
Neuronal Migration Disorder Panel.

By Blueprint Genetics in Finland.

YWHAE, COL4A2, SEPSECS, LAMB1, MPDZ, TUBG1, KATNB1, RTTN, OCLN, AKT3, PIK3R2, VLDLR, RAB18, PIK3CA, KIF7, RAB3GAP2, GMPPB, GPSM2, FLVCR2, TUBB2A , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
5 %
Autosomal Recessive Primary Microcephaly Type 2 , Sequencing WDR62 Gene.

By Reference Laboratory Genetics in Spain.

WDR62
Specificity
100 %
Genes
5 %
Microcephaly 4, primary, AR (sequence analysis of CASC5 gene).

By CGC Genetics in Portugal.

KNL1
Specificity
100 %
Genes
5 %
Microcephaly, autosomal recessive type 4.

By Centogene AG - the Rare Disease Company in Germany.

KNL1
Specificity
100 %
Genes
5 %
CASC5.

By Fulgent Genetics Fulgent Genetics in United States.

KNL1
Specificity
100 %
Genes
5 %
PHC1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PHC1
Specificity
100 %
Genes
5 %
Microcephaly, autosomal recessive type 11.

By Centogene AG - the Rare Disease Company in Germany.

PHC1
Specificity
100 %
Genes
5 %
ANKLE2.

By Fulgent Genetics Fulgent Genetics in United States.

ANKLE2
Specificity
100 %
Genes
5 %
MFSD2A.

By Fulgent Genetics Fulgent Genetics in United States.

MFSD2A
Specificity
100 %
Genes
5 %
Seckel Syndrome Panel.

By Genetic Services Laboratory University of Chicago in United States.

NIN, TRAIP, CEP63, LIG4, RBBP8, DNA2, ATR, PCNT, CEP152, CENPJ
Specificity
30 %
Genes
14 %
Comprehensive Primordial Dwarfism Panel.

By Genetic Services Laboratory University of Chicago in United States.

POC1A, LARP7, CRIPT, PLK4, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, GMNN, ORC1, TRAIP, CEP63, SASS6, CUL7, RTTN, LIG4 , (...)

View the complete list with 8 more genes
Specificity
18 %
Genes
22 %
Seckel syndrome type 6 (sequence analysis of CEP63 gene).

By CGC Genetics in Portugal.

CEP63
Specificity
100 %
Genes
5 %
Microcephalic primordial dwarfism Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DONSON, ATRIP, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, GMNN, ORC1, CDC45, NIN, TRAIP, CEP63, LIG4, RBBP8, DNA2, ATR, PCNT, CEP152 , (...)

View the complete list with 1 more genes
Specificity
15 %
Genes
14 %
Microcephalic primordial dwarfism Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

DONSON, ATRIP, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, GMNN, ORC1, CDC45, NIN, TRAIP, CEP63, LIG4, RBBP8, DNA2, ATR, PCNT, CEP152 , (...)

View the complete list with 1 more genes
Specificity
15 %
Genes
14 %
Microcephalic primordial dwarfism NGS panel.

By Connective Tissue Gene Tests in United States.

DONSON, ATRIP, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, GMNN, ORC1, CDC45, NIN, TRAIP, CEP63, LIG4, RBBP8, DNA2, ATR, PCNT, CEP152 , (...)

View the complete list with 1 more genes
Specificity
15 %
Genes
14 %
Microcephaly CEP63 related.

By Centogene AG - the Rare Disease Company in Germany.

CEP63
Specificity
100 %
Genes
5 %
Seckel syndrome 6.

By Centogene AG - the Rare Disease Company in Germany.

CEP63
Specificity
100 %
Genes
5 %
Single gene testing CEP63.

By CeGaT GmbH in Germany.

CEP63
Specificity
100 %
Genes
5 %
Selected Genetic Syndromes with skeletal involvement Panel.

By CeGaT GmbH in Germany.

TBX3, MEOX1, FGF9, SF3B4, TBCE, FAM111A, POC1A, LARP7, CCDC8, OBSL1, ORC4, ORC6, CDT1, CDC6, ORC1, NIN, CEP63, CUL7, CCNQ, TBX15 , (...)

View the complete list with 22 more genes
Specificity
8 %
Genes
14 %
Primordial Dwarfism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CEP63, RBBP8, ATR, PCNT, CEP152, CENPJ
Specificity
25 %
Genes
14 %
CEP63.

By Fulgent Genetics Fulgent Genetics in United States.

CEP63
Specificity
100 %
Genes
5 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

IRS1, IGFALS, IGF1R, TBX3, IGF1, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CDC45, CEP63, CUL7, RTTN , (...)

View the complete list with 55 more genes
Specificity
4 %
Genes
14 %
3-M Syndrome / Primordial Dwarfism Panel.

By Blueprint Genetics in Finland.

POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CDC45, CEP63, CUL7, RTTN, SRCAP, NOTCH2, RBBP8, TRIM37, ATR , (...)

View the complete list with 4 more genes
Specificity
13 %
Genes
14 %
Seckel Syndrome Panel.

By Blueprint Genetics in Finland.

CEP63, RBBP8, ATR, PCNT, CEP152, CENPJ
Specificity
50 %
Genes
14 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
14 %
Seckel Syndrome NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

CEP63, RBBP8, ATR, CEP152, CENPJ
Specificity
60 %
Genes
14 %
CEP63 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

CEP63
Specificity
100 %
Genes
5 %
SYNDROME DE SECKEL: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

NIN, CEP63, RBBP8, DNA2, ATR, CEP152, CENPJ
Specificity
43 %
Genes
14 %
SECKEL SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

CEP63, RBBP8, DNA2, ATR, CEP152, CENPJ
Specificity
50 %
Genes
14 %
Seckel Syndrome, Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

CEP63, RBBP8, ATR, CEP152, CENPJ
Specificity
60 %
Genes
14 %
Primordial Dwarfism and Related Disorders , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CEP63, RBBP8, ATR, PCNT, CEP152, CENPJ
Specificity
25 %
Genes
14 %
STIL sequencing.

By Genetic Services Laboratory University of Chicago in United States.

STIL
Specificity
100 %
Genes
5 %
Holoprosencephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GLI2, CDON, ZIC2, TGIF1, STIL, SIX3, FGF8, FGFR1, PTCH1, SHH
Specificity
10 %
Genes
5 %
Holoprosencephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

GLI2, CDON, ZIC2, TGIF1, STIL, SIX3, FGF8, FGFR1, PTCH1, SHH
Specificity
10 %
Genes
5 %
STIL.

By Institute for Human Genetics University Clinic Freiburg in Germany.

STIL
Specificity
100 %
Genes
5 %
STIL mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

STIL
Specificity
100 %
Genes
5 %
Microcephaly 7, primary, AR (sequence analysis of STIL gene).

By CGC Genetics in Portugal.

STIL
Specificity
100 %
Genes
5 %
RT-PCR del(1p32)(SIL/TAL1).

By CGC Genetics in Portugal.

TAL1, STIL
Specificity
50 %
Genes
5 %
Primary Microcephaly, Autosomal Recessive, via STIL Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

STIL
Specificity
100 %
Genes
5 %
Microcephaly, primary autosomal recessive type 7Microcephaly, primary autosomal recessive type 7.

By Centogene AG - the Rare Disease Company in Germany.

STIL
Specificity
100 %
Genes
5 %
STIL.

By Fulgent Genetics Fulgent Genetics in United States.

STIL
Specificity
100 %
Genes
5 %
CEP152 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

CEP152
Specificity
100 %
Genes
5 %
CEP152.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CEP152
Specificity
100 %
Genes
5 %
Microcephaly 9, primary, AR (sequence analysis of CEP152 gene).

By CGC Genetics in Portugal.

CEP152
Specificity
100 %
Genes
5 %
Primary Microcephaly, Autosomal Recessive, via CEP152 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CEP152
Specificity
100 %
Genes
5 %
Seckel Syndrome.

By Institute of Human Genetics Cologne University in Germany.

ATRIP, NIN, RBBP8, DNA2, ATR, CDK5RAP2, CEP152, CENPJ
Specificity
38 %
Genes
14 %
Microcephaly, autosomal recessive type 9.

By Centogene AG - the Rare Disease Company in Germany.

CEP152
Specificity
100 %
Genes
5 %
Microcephaly, primary, autosomal recessive type 4.

By Centogene AG - the Rare Disease Company in Germany.

CEP152
Specificity
100 %
Genes
5 %
Microcephaly 4, primary, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

CEP152
Specificity
100 %
Genes
5 %
Seckel syndrome 5.

By Centogene AG - the Rare Disease Company in Germany.

CEP152
Specificity
100 %
Genes
5 %
CEP152.

By Fulgent Genetics Fulgent Genetics in United States.

CEP152
Specificity
100 %
Genes
5 %
CEP152 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

CEP152
Specificity
100 %
Genes
5 %
CEP135.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CEP135
Specificity
100 %
Genes
5 %
Microcephaly 8, primary, AR (sequence analysis of CEP135 gene).

By CGC Genetics in Portugal.

CEP135
Specificity
100 %
Genes
5 %
Microcephaly, primary autosomal recessive type 8.

By Centogene AG - the Rare Disease Company in Germany.

CEP135
Specificity
100 %
Genes
5 %
CEP135.

By Fulgent Genetics Fulgent Genetics in United States.

CEP135
Specificity
100 %
Genes
5 %
CENPJ sequencing.

By Genetic Services Laboratory University of Chicago in United States.

CENPJ
Specificity
100 %
Genes
5 %
CENPJ.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CENPJ
Specificity
100 %
Genes
5 %
CENPJ mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

CENPJ
Specificity
100 %
Genes
5 %
Microcephaly 6, primary, AR (sequence analysis of CENPJ gene).

By CGC Genetics in Portugal.

CENPJ
Specificity
100 %
Genes
5 %
CENPJ-Related Disorders via CENPJ Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CENPJ
Specificity
100 %
Genes
5 %
Microcephaly 6, primary, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

CENPJ
Specificity
100 %
Genes
5 %
Seckel syndrome 4.

By Centogene AG - the Rare Disease Company in Germany.

CENPJ
Specificity
100 %
Genes
5 %
Seckel Syndrome 4.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

CENPJ
Specificity
100 %
Genes
5 %
Microcephaly 6, primary, autosomal recessive.

By Praxis fuer Humangenetik Wien in Austria.

CENPJ
Specificity
100 %
Genes
5 %
Seckel syndrome 4.

By Praxis fuer Humangenetik Wien in Austria.

CENPJ
Specificity
100 %
Genes
5 %
Microcephaly 6, primary, autosomal recessive.

By MedGene in Slovakia.

CENPJ
Specificity
100 %
Genes
5 %
Seckel syndrome 4.

By MedGene in Slovakia.

CENPJ
Specificity
100 %
Genes
5 %
CENPJ.

By Fulgent Genetics Fulgent Genetics in United States.

CENPJ
Specificity
100 %
Genes
5 %
CENPJ Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

CENPJ
Specificity
100 %
Genes
5 %
CDK5RAP2 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

CDK5RAP2
Specificity
100 %
Genes
5 %
CDK5RAP2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CDK5RAP2
Specificity
100 %
Genes
5 %
Microcephaly 3, primary, AR (sequence analysis of CDK5RAP2 gene).

By CGC Genetics in Portugal.

CDK5RAP2
Specificity
100 %
Genes
5 %
Primary Microcephaly, Autosomal Recessive, via CDK5RAP2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CDK5RAP2
Specificity
100 %
Genes
5 %
Microcephaly 3, primary, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

CDK5RAP2
Specificity
100 %
Genes
5 %
Single gene testing CDK5RAP2.

By CeGaT GmbH in Germany.

CDK5RAP2
Specificity
100 %
Genes
5 %
CDK5RAP2.

By Fulgent Genetics Fulgent Genetics in United States.

CDK5RAP2
Specificity
100 %
Genes
5 %
CIT.

By Fulgent Genetics Fulgent Genetics in United States.

CIT
Specificity
100 %
Genes
5 %
NCAPD3.

By Fulgent Genetics Fulgent Genetics in United States.

NCAPD3
Specificity
100 %
Genes
5 %

Alternate names

Microcephaly 1, Primary, Autosomal Recessive; Mcph1 Is also known as premature chromosome condensation with microcephaly and mental retardation, premature chromosome condensation syndrome, pcc syndrome;mcph; microcephalia vera; microcephaly vera; true microcephaly.



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