16q24.3 Microdeletion Syndrome

Description

Del(16)(q24.3); Monosomy 16q24.3

  Similar diseases  

Clinical Features

Top most frequent phenotypes and symptoms related to 16q24.3 Microdeletion Syndrome

  • Seizures
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Micrognathia
  • Strabismus
  • Cryptorchidism
  • Visual impairment
  • High palate
  • Feeding difficulties
View the complete list of symptoms

Incidence and onset information

Not enough data available about incidence and published cases.

16q24.3 Microdeletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, KRT3, KRT12, GPD2, EFEMP1, SNCB, COL5A2, COL5A1, MEN1, WWOX, FZD4 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
34 %
Compare panel coverage
ACSF3 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ACSF3
Specificity
100 %
Genes
17 %
Compare panel coverage
ACSF3 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ACSF3
Specificity
100 %
Genes
17 %
Compare panel coverage
ACSF3 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ACSF3
Specificity
100 %
Genes
17 %
Compare panel coverage
ACSF3 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ACSF3
Specificity
100 %
Genes
17 %
Compare panel coverage
ACSF3 Sequence and Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ACSF3
Specificity
100 %
Genes
17 %
Compare panel coverage
Methylmalonic Acidemia Sequencing NextGen Panel.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

TCN1, CD320, CBS, IVD, MMAA, MMAB, MCEE, GIF, TCN2, SUCLA2, ACSF3, MTR, MTHFR
Specificity
8 %
Genes
17 %
Compare panel coverage
Cobalamin Metabolism Disorder.

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

CD320, ABCD4, CBS, IVD, SUCLG1, MUT, MMAA, MMAB, MCEE, GIF, TCN2, LMBRD1, MMADHC, ACSF3, MTRR, MTR, MMACHC
Specificity
6 %
Genes
17 %
Compare panel coverage
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing (25 Genes) and Deletion/Duplication (24 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

FCGR2A, MAT1A, TCN1, HCFC1, ABCD4, CBS, SUCLG1, MUT, MMAA, MMAB, MCEE, GIF, CUBN, TCN2, LMBRD1, MMADHC, PCCA, PCCB, SUCLA2, ACSF3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
17 %
Compare panel coverage
ACSF3 Gene Sequencing.

By GeneDx in United States.

ACSF3
Specificity
100 %
Genes
17 %
Compare panel coverage
Combined malonic and methylmalonic aciduria (sequence analysis of ACSF3 gene).

By CGC Genetics in Portugal.

ACSF3
Specificity
100 %
Genes
17 %
Compare panel coverage
Methylmalonic aciduria (NGS panel for 15 genes).

By CGC Genetics in Portugal.

CD320, ABCD4, SUCLG1, MLYCD, MUT, MMAA, MMAB, MCEE, LMBRD1, MMADHC, SUCLA2, ACSF3, MTRR, MTR, MMACHC
Specificity
7 %
Genes
17 %
Compare panel coverage
Methylmalonic Acidemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CD320, SUCLG1, MLYCD, MUT, MMAA, MMAB, MCEE, MMADHC, SUCLA2, ALDH6A1, ACSF3
Specificity
10 %
Genes
17 %
Compare panel coverage
Combined Malonic and Methylmalonic Aciduria (CMAMMA) via ACSF3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ACSF3
Specificity
100 %
Genes
17 %
Compare panel coverage
Metabolic Hypoglycemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PCK1, SLC2A2, GALT, OXCT1, MLYCD, PHKB, PGM1, PHKG2, G6PC, PYGL, HMGCL, PCK2, PHKA2, ACSF3, SLC16A1, SLC37A4, GYS2, PC, FBP1, ALDOB , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
17 %
Compare panel coverage
Organic Aciduria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC25A1, CD320, GCDH, ETFDH, ETFA, ETFB, L2HGDH, IVD, MLYCD, DBT, MUT, MMAA, MMAB, MCEE, MMADHC, D2HGDH, PCCA, PCCB, IDH2, ALDH6A1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
17 %
Compare panel coverage
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MAT1A, SLC46A1, TCN1, CD320, HCFC1, FOLR1, GNMT, AHCY, ABCD4, CBS, SUCLG1, MLYCD, MUT, MMAA, MMAB, MCEE, GIF, CUBN, TCN2, LMBRD1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
17 %
Compare panel coverage
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, SFXN4, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A, WAC, CNKSR1, HIST3H3 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
34 %
Compare panel coverage
Acyl-CoA synthetase family, member 3 deficiency (ACSF3).

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

ACSF3
Specificity
100 %
Genes
17 %
Compare panel coverage
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FLRT1, ADK, KCNK9, HERC2, WAC, ERBB4, RBFOX3, STRADA, ARSI, USP8, WDR48, ZFR, ATP2B4, NOG, PRRX1, NECTIN1, UPB1, KANK1, ALAD, CACNA1B , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
50 %
Compare panel coverage
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
1 %
Genes
17 %
Compare panel coverage
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, CD3E, RAG2, RAG1, CD40LG, CD40, AICDA, TNFRSF13B, MASTL , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Combined malonic and methylmalonic aciduria.

By Centogene AG - the Rare Disease Company in Germany.

ACSF3
Specificity
100 %
Genes
17 %
Compare panel coverage
Methylmalonic Aciduria and Homocystinuria.

By Asper Biogene Asper Biogene LLC in Estonia.

TCN1, CD320, ABCD4, CBS, IVD, SUCLG1, MLYCD, MUT, MMAA, MMAB, MCEE, GIF, CUBN, TCN2, LMBRD1, MMADHC, SUCLA2, ACSF3, MTRR, MTR , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
17 %
Compare panel coverage
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, CD40LG, LDLRAP1 , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
34 %
Compare panel coverage
Invitae Organic Acidemias Panel.

By Invitae in United States.

OPLAH, PPM1K, FTCD, SERAC1, SLC25A1, GSS, ASPA, GCDH, ETFDH, ETFA, ETFB, L2HGDH, IVD, OXCT1, SUCLG1, MLYCD, DBT, HIBCH, MUT, MMAA , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
17 %
Compare panel coverage
Invitae Metabolic Disorders Newborn Screening Confirmation Panel.

By Invitae in United States.

PPM1K, FTCD, SERAC1, GSS, HADH, PCBD1, MAT1A, CD320, HCFC1, GCH1, G6PD, IDUA, GLA, CFTR, HPD, GNMT, AHCY, ABCD4, ASL, SLC25A20 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
17 %
Compare panel coverage
Inherited Metabolic Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SERAC1, CD320, HYAL1, NAGA, NEU1, MFSD8, CLN5, SUMF1, SLC17A5, MCOLN1, SLC7A7, PPT1, CLN8, CLN6, NPC2, NPC1, LIPA, IDUA, IDS, GLA , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Methylmalonic Acid Metabolism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CD320, SUCLG1, MUT, MMAA, MMAB, MCEE, TCN2, LMBRD1, MMADHC, SUCLA2, ALDH6A1, ACSF3, MMACHC
Specificity
8 %
Genes
17 %
Compare panel coverage
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CKM, NIPSNAP1, USP24, TOP1MT, TST, SIRT3, SIRT1, SLC25A39, SIRT5, CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2 , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
34 %
Compare panel coverage
ACSF3.

By Fulgent Genetics Fulgent Genetics in United States.

ACSF3
Specificity
100 %
Genes
17 %
Compare panel coverage
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel.

By Blueprint Genetics in Finland.

ADK, FLAD1, CTH, UMPS, PEPD, CLPB, SERAC1, SLC25A1, CD320, HCFC1, GNMT, SUGCT, AHCY, ABCD4, GCDH, ETFDH, ETFA, ETFB, CBS, L2HGDH , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
17 %
Compare panel coverage
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

PRKAG3, COQ5, NIPA2, GLUL, SLC6A9, SLC25A26, COQ7, ADK, GMPPA, TANGO2, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
50 %
Compare panel coverage
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel.

By Blueprint Genetics in Finland.

PRKAG3, PCK1, GYG1, RBCK1, INSR, PTF1A, SLC2A2, HADH, PGK1, PRKAG2, LAMP2, EPM2A, NHLRC1, HNF4A, PDX1, KCNJ11, ABCC8, GBE1, PYGM, PFKM , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
17 %
Compare panel coverage
METHYLMALONIC ACIDEMIA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

CD320, HCFC1, ABCD4, SUCLG1, MLYCD, MUT, MMAA, MMAB, MCEE, LMBRD1, MMADHC, SUCLA2, ACSF3, MMACHC
Specificity
8 %
Genes
17 %
Compare panel coverage
Methylmalonic acidemia: gene sequencing panel (RAPID testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CD320, HCFC1, ABCD4, MUT, MMAA, MMAB, TCN2, LMBRD1, MMADHC, ACSF3, MMACHC
Specificity
10 %
Genes
17 %
Compare panel coverage
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SLC5A5, DUOX2, PAX8, HADH, PCBD1, MAT1A, CD320, HCFC1, GJB3, CYP21A2, GCH1, MCOLN1, HBA2, G6PD, HBA1, NPC2, NPC1, IDUA, GLA, GJB6 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
17 %
Compare panel coverage
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TG, TPO, SLC5A5, DUOX2, THRA, TSHB, PAX8, HADH, PCBD1, MAT1A, CD320, THRB, HCFC1, GJB3, CYP21A2, GCH1, MCOLN1, HBA2, G6PD, HBA1 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Combined malonic and methylmalonic aciduria: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ACSF3
Specificity
100 %
Genes
17 %
Compare panel coverage
APRT Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

APRT
Specificity
100 %
Genes
17 %
Compare panel coverage
APRT Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

APRT
Specificity
100 %
Genes
17 %
Compare panel coverage
APRT Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

APRT
Specificity
100 %
Genes
17 %
Compare panel coverage
ExomePLUS Electrolyte & Kidney Stone.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

SLC22A12, CLDN19, CLDN16, FAM20A, WNK4, CUL3, GALNT3, AVP, ENPP1, SLC34A3, CLCN5, GCM2, PTH, AP2S1, HOGA1, ATP6V0A4, SLC4A1, GNA11, SLC2A2, KLHL3 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
17 %
Compare panel coverage
Deficiency of AMP pyrophorylase.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

APRT
Specificity
100 %
Genes
17 %
Compare panel coverage
Test for Adenine Phosphoribosyltransferase Deficiency.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

APRT
Specificity
100 %
Genes
17 %
Compare panel coverage
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC26A1, ADCY10, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, HOGA1, ATP6V0A4, SLC4A1, ATP6V1B1, SLC12A1, KCNJ1, HNF4A, CASR, GRHPR, VDR , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
17 %
Compare panel coverage
Nephrolithiasis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

SLC26A1, ADCY10, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, AP2S1, HOGA1, ATP6V0A4, SLC4A1, GNA11, ATP6V1B1, SLC12A1, KCNJ1, HNF4A, CASR , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
17 %
Compare panel coverage
Nephrolithiasis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SLC26A1, ADCY10, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, AP2S1, HOGA1, ATP6V0A4, SLC4A1, GNA11, ATP6V1B1, SLC12A1, KCNJ1, HNF4A, CASR , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
17 %
Compare panel coverage
Nephrolithiasis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SLC26A1, ADCY10, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, AP2S1, HOGA1, ATP6V0A4, SLC4A1, GNA11, ATP6V1B1, SLC12A1, KCNJ1, HNF4A, CASR , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
17 %
Compare panel coverage
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, LAMA5, NRIP1, RMND1, SGPL1, MAPKBP1, MAGED2, DYNC2LI1, IFT52, MOCOS, SLC26A1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Adenine phosphoribosyltransferase deficiency.

By Centogene AG - the Rare Disease Company in Germany.

APRT
Specificity
100 %
Genes
17 %
Compare panel coverage
APRT.

By Fulgent Genetics Fulgent Genetics in United States.

APRT
Specificity
100 %
Genes
17 %
Compare panel coverage
KidneySeq - 264 Genes.

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

DLG1, SLIT2, KIF12, DLC1, E2F3, DACH1, SLC41A1, SGPL1, MAGED2, ADCY10, FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Nephrolithiasis Panel.

By Blueprint Genetics in Finland.

MOCOS, SLC26A1, ADCY10, GPHN, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, HOGA1, ATP6V0A4, SLC4A1, GNA11, ATP6V1B1, SLC12A1, KCNJ1, HNF4A , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
17 %
Compare panel coverage
Purine and Pyrimidine Metabolism Disorders Panel.

By Blueprint Genetics in Finland.

MOCOS, DPYS, UPB1, GPHN, UMPS, REN, TPMT, AMPD1, PRPS1, UMOD, DPYD, PNP, APRT, ADA, MOCS1, NT5C3A, XDH, ATIC, DHODH, HPRT1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
17 %
Compare panel coverage
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.

By Athena Diagnostics Inc in United States.

ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, SETBP1, SERPINI1, KIF1BP, KCNJ10, ANKRD11, PIGV, PIGN, PIGA, ROGDI, KANSL1, MAGI2, KMT2D, LGI1, KCNA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
17 %
Compare panel coverage
Coffin-Siris Syndrome Panel.

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

SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SOX11, HELLS, SMARCE1, ARID2, ARID1B, ADNP, PHF6, ANKRD11, PIGV, KMT2D, TBC1D24, NIPBL, SMC1A, SMC3, RAD21 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
17 %
Compare panel coverage
Autism Spectrum Disorders 53-Gene Panel.

By Center for Human Genetics, Inc in United States.

CNTNAP5, DLGAP2, DPP10, DPP6, GRPR, PCDH9, SLC9A9, ASTN2, CADM1, CNTN4, CXCR3, FABP5, FABP7, FBXO40, GLRA2, HNRNPH2, MBD1, MBD3, MBD4, MDGA2 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
17 %
Compare panel coverage
Autsim Panel.

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

NR1I3, AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Cornelia de Lange Syndrome PLUS Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ROR2, ESCO2, WNT5A, EP300, SMARCA2, ARID1A, SMARCB1, SMARCA4, SOX11, SMARCE1, ARID1B, ADNP, PHF6, ANKRD11, TBC1D24, NIPBL, SMC1A, SMC3, RAD21, HDAC8 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
17 %
Compare panel coverage
Coffin-Siris syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SMARCA2, ARID1A, SMARCB1, SMARCA4, SOX11, SMARCE1, ARID1B, ADNP, PHF6, ANKRD11, TBC1D24
Specificity
10 %
Genes
17 %
Compare panel coverage
Coffin-Siris syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

SMARCA2, ARID1A, SMARCB1, SMARCA4, SOX11, SMARCE1, ARID1B, ADNP, PHF6, ANKRD11, TBC1D24
Specificity
10 %
Genes
17 %
Compare panel coverage
Cornelia de Lange PLUS Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

ROR2, ESCO2, WNT5A, AFF4, EP300, SMARCA2, ARID1A, SMARCB1, SMARCA4, SOX11, SMARCE1, ARID1B, ADNP, PHF6, ANKRD11, TBC1D24, NIPBL, SMC1A, SMC3, RAD21 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
17 %
Compare panel coverage
ANKRD11 Gene Sequencing.

By GeneDx in United States.

ANKRD11
Specificity
100 %
Genes
17 %
Compare panel coverage
AutismNext.

By Ambry Genetics in United States.

POGZ, KATNAL2, UPF3B, NLGN3, NLGN4X, ARID1B, TBR1, CHD8, CACNA1C, FOXP1, MED12, ADNP, PTCHD1, SHANK3, ZEB2, RAB39B, GRIA3, CNTNAP2, TCF4, ANKRD11 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
17 %
Compare panel coverage
CustomNext: Neuro.

By Ambry Genetics in United States.

KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
IDNext.

By Ambry Genetics in United States.

KAT6A, DDX3X, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3 , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
ANKRD11. Complete sequencing.

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

ANKRD11
Specificity
100 %
Genes
17 %
Compare panel coverage
Cornelia de Lange Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ASXL3, ASXL1, ANKRD11, NIPBL, SMC1A, SMC3, RAD21, HDAC8
Specificity
13 %
Genes
17 %
Compare panel coverage
Cornelia de Lange Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ASXL3, ASXL1, ANKRD11, NIPBL, SMC1A, SMC3, RAD21, HDAC8
Specificity
13 %
Genes
17 %
Compare panel coverage
Cornelia de Lange Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ASXL3, ASXL1, ANKRD11, NIPBL, SMC1A, SMC3, RAD21, HDAC8
Specificity
13 %
Genes
17 %
Compare panel coverage
KBG syndrome (sequence analysis of ANKRD11 gene).

By CGC Genetics in Portugal.

ANKRD11
Specificity
100 %
Genes
17 %
Compare panel coverage
Cornelia de Lange Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AFF4, KMT2A, ANKRD11, NIPBL, SMC1A, SMC3, RAD21, HDAC8
Specificity
13 %
Genes
17 %
Compare panel coverage
Cornelia de Lange Syndrome via the ANKRD11 Gene.

By PreventionGenetics PreventionGenetics in United States.

ANKRD11
Specificity
100 %
Genes
17 %
Compare panel coverage
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TGDS, DDX59, COL27A1, SULF1, NPPC, TXNL4A, TBX4, RASGRP2, KIF22, ADAMTS17, ACAN, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, GHSR, TBX6, XYLT1 , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Discorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

WDR26, KDM1A, TAF6, DLL4, EOGT, ARHGAP31, RBPJ, DOCK6, CTCF, ESCO2, SRCAP, AFF4, EP300, ARID1A, SMARCB1, SMARCA4, KMT2A, SOX11, SMARCE1, NOTCH1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
17 %
Compare panel coverage
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MBD6, WDFY3, DGAT2L6, CDC42BPB, SYN2, STXBP5, KAT2B, TNRC6B, TCF20, KMT5B, MYO9B, CSMD1, NAA15, DSCAM, DISC1, EFR3A, CTTNBP2, CNTN6, CTNND2, ASH1L , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Cornelia de Lange syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

AFF4, KMT2A, ANKRD11, NIPBL, SMC1A, SMC3, RAD21, HDAC8
Specificity
13 %
Genes
17 %
Compare panel coverage
Cornelia de Lange syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

AFF4, KMT2A, ANKRD11, NIPBL, SMC1A, SMC3, RAD21, HDAC8
Specificity
13 %
Genes
17 %
Compare panel coverage
Cornelia de Lange syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

AFF4, KMT2A, ANKRD11, NIPBL, SMC1A, SMC3, RAD21, HDAC8
Specificity
13 %
Genes
17 %
Compare panel coverage
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

NFATC2IP, PLXND1, REV3L, NXF5, HERC2, WAC, STRADA, MED13L, BCL11A, DLL4, TXNL4A, LMBR1, NOG, DCHS1, DVL1, EOGT, DIS3L2, TBX3, ARHGAP31, RBPJ , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

NFATC2IP, PLXND1, REV3L, NXF5, HERC2, WAC, STRADA, MED13L, BCL11A, DLL4, TXNL4A, LMBR1, NOG, DCHS1, DVL1, EOGT, DIS3L2, SPRED1, TWIST1, POR , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
KBG syndrome.

By Centogene AG - the Rare Disease Company in Germany.

ANKRD11
Specificity
100 %
Genes
17 %
Compare panel coverage
Autism Spectrum Disorders.

By Asper Biogene Asper Biogene LLC in Estonia.

EN2, PDE8B, AVPR1A, SLC6A4, SLC9A9, MAGEL2, RPL10, NLGN4X, HOXA1, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, NTNG1, ADNP, PTCHD1, SHANK3, VPS13B , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
17 %
Compare panel coverage
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Invitae KBG Syndrome Test.

By Invitae in United States.

ANKRD11
Specificity
100 %
Genes
17 %
Compare panel coverage
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME.

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

PRKCB, PIK3CG, LRP1, CRKL, PIK3CB, MAPK1, GAB2, CRK, SPRY2, IL2, PRKCH, RAC1, ERBB2, SRC, IL2RA, SRCAP, PIK3R1, PIK3CD, AKT1, PIK3R2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
17 %
Compare panel coverage
Autism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
ANKRD11.

By Fulgent Genetics Fulgent Genetics in United States.

ANKRD11
Specificity
100 %
Genes
17 %
Compare panel coverage
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, BHLHA9, WDR34, FAM83H , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
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
17 %
Compare panel coverage
KBG SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

ANKRD11
Specificity
100 %
Genes
17 %
Compare panel coverage
KBG Syndrome , Sequencing ANKRD11 Gene.

By Reference Laboratory Genetics in Spain.

ANKRD11
Specificity
100 %
Genes
17 %
Compare panel coverage
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes.

By Reference Laboratory Genetics in Spain.

BDNF, SLC6A4, AUTS2, KLHL3, PDE10A, SATB2, SOX5, DPP6, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
17 %
Compare panel coverage
BANP.

By Fulgent Genetics Fulgent Genetics in United States.

BANP
Specificity
100 %
Genes
17 %
Compare panel coverage
SPG7 (Paraplegin) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

SPG7
Specificity
100 %
Genes
17 %
Compare panel coverage
HSP, Comprehensive Evaluation.

By Athena Diagnostics Inc in United States.

ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, WASHC5, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, SPG11, ZFYVE26, ATL1, SACS , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
17 %
Compare panel coverage
HSP, Complete Recessive Evaluation.

By Athena Diagnostics Inc in United States.

ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, SPG11, ZFYVE26, SACS, SPG7
Specificity
9 %
Genes
17 %
Compare panel coverage
HSP, Common Sporadic Evaluation.

By Athena Diagnostics Inc in United States.

SPAST, SPG7
Specificity
50 %
Genes
17 %
Compare panel coverage
HSP, Common Recessive Evaluation.

By Athena Diagnostics Inc in United States.

SPG11, ZFYVE26, SPG7
Specificity
34 %
Genes
17 %
Compare panel coverage
Optic Atrophy and Early Glaucoma Panel.

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

SH3PXD2B, SLC4A4, LTBP2, ASB10, FOXE3, MAF, TBK1, ACVR1, CANT1, NR2F1, COL4A1, SBF2, MYOC, LMX1B, NDUFS1, CISD2, SPG7, TMEM126A, MTPAP, ACO2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
17 %
Compare panel coverage
Mitochondrial Depletion Panel.

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

DNA2, FBXL4, TFAM, MGME1, APTX, SUCLG1, MPV17, TYMP, SPG7, TK2, POLG2, SUCLA2, GFER, ABAT, DGUOK, AGK, OPA3, MFN2, RRM2B, SLC25A4 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
17 %
Compare panel coverage
Hereditary Spastic Paraplegia Panel.

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

ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
17 %
Compare panel coverage
Test for Spastic Paraplegia 7.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

SPG7
Specificity
100 %
Genes
17 %
Compare panel coverage
HSPAR panel.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

CCT5, SPG21, SPART, CYP7B1, PNPLA6, SPG11, ZFYVE26, SACS, GJC2, SPG7
Specificity
10 %
Genes
17 %
Compare panel coverage
Hereditary Spastic Paraplegia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

ARL6IP1, IBA57, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD1, TECPR2, DDHD2, GBA2, B4GALNT1, C19orf12, KIF1C, NT5C2, ENTPD1, CPT1C, MAG, CAPN1, KIDINS220 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
17 %
Compare panel coverage
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
17 %
Compare panel coverage
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

PPM1B, PREPL, HADH, MT-TA, MT-TW, MT-TY, MT-TV, MT-TL2, MT-TM, MT-TF, MT-TR, MT-TD, MT-TC, MT-TQ, MT-TH, MT-TE, MT-ND4L, MT-TN, MT-TI, MT-TG , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
SPG7. Complete sequencing.

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

SPG7
Specificity
100 %
Genes
17 %
Compare panel coverage
Hereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes).

By CGC Genetics in Portugal.

AMPD2, ARL6IP1, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, VPS37A, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, B4GALNT1, C19orf12, NT5C2, ENTPD1, TFG, SPG21, SPART , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
17 %
Compare panel coverage
Duane-radial ray syndrome (sequence analysis of SALL4 gene).

By CGC Genetics in Portugal.

SPG7
Specificity
100 %
Genes
17 %
Compare panel coverage
Spastic paraplegia 7 (SPG7, sequence analysis of SPG7 gene).

By CGC Genetics in Portugal.

SPG7
Specificity
100 %
Genes
17 %
Compare panel coverage
Hereditary spastic paraplegia (NGS panel for 43 genes).

By CGC Genetics in Portugal.

AMPD2, ARL6IP1, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, VPS37A, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, B4GALNT1, C19orf12, NT5C2, ENTPD1, TFG, SPG21 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
17 %
Compare panel coverage
Hereditary spastic paraplegias (deletion/duplication analysis of REEP1 and SPG7 genes).

By CGC Genetics in Portugal.

SPG7, REEP1
Specificity
50 %
Genes
17 %
Compare panel coverage
Hereditary spastic paraplegias (deletion/duplication analysis of REEP1 and SPG7 genes).

By CGC Genetics in Portugal.

SPG7, REEP1
Specificity
50 %
Genes
17 %
Compare panel coverage
Optic Atrophy and Hereditary Spastic Paraplegia via the SPG7 Gene.

By PreventionGenetics PreventionGenetics in United States.

SPG7
Specificity
100 %
Genes
17 %
Compare panel coverage
Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ZFR, ATP2B4, ZFYVE27, DDHD1, CYP2U1, KIF1C, NT5C2, CPT1C, CAPN1, REEP2, ERLIN1, BICD2, AP5Z1, CYP7B1, KIF1A, RTN2, WASHC5, SLC33A1, NIPA1, KIF5A , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
17 %
Compare panel coverage
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DARS, ARSI, USP8, WDR48, DSTYK, UNC80, AMPD2, ARL6IP1, IBA57, CCT5, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, DDHD1, TECPR2, DDHD2 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
17 %
Compare panel coverage
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DARS, ARSI, USP8, WDR48, ZFR, ATP2B4, DSTYK, UNC80, AMPD2, ARL6IP1, IBA57, CCT5, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
17 %
Compare panel coverage
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DNA2, FBXL4, SUCLG2, MGME1, APTX, SUCLG1, MPV17, TYMP, SPG7, TK2, POLG2, SLC25A3, SUCLA2, DGUOK, AGK, OPA3, MFN2, RRM2B, SLC25A4, POLG , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
17 %
Compare panel coverage
Optic Atrophy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NR2F1, NDUFS1, TIMM8A, CISD2, SPG7, TMEM126A, MTPAP, SLC24A1, ACO2, OPA3, MFN2, POLG, WFS1, OPA1, C12orf65, AUH
Specificity
7 %
Genes
17 %
Compare panel coverage
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ISCA2, JAM3, LYRM7, DARS, AIMP1, PEX11B, COL4A2, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, SLC25A1, IBA57, HEPACAM, OCLN, ERCC8, EARS2 , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Spastic paraplegia - SPG7.

By MGZ Medical Genetics Center in Germany.

SPG7
Specificity
100 %
Genes
17 %
Compare panel coverage
Mitochondrial Ataxia.

By MGZ Medical Genetics Center in Germany.

MARS2, TACO1, APTX, ABCB7, SPG7, COQ8A, MTPAP, AFG3L2, POLG, C12orf65
Specificity
10 %
Genes
17 %
Compare panel coverage
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

TRIT1, PITRM1, KLC4, PTCD1, VARS2, TARS2, IARS2, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, GTPBP3, TRMT5, SLC25A42, PARS2, MRPS7 , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

TRIT1, TARS2, PPT2, RMND1, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1, SCO1 , (...)

View the complete list with 166 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Mitochondrial Diseases.

By MGZ Medical Genetics Center in Germany.

TRIT1, PTCD1, VARS2, TARS2, RMND1, FLAD1, LYRM7, NDUFB9, ATP5F1A, UQCRC2, SERAC1, IBA57, MICU1, EIF2AK3, EARS2, TPK1, SCO1, COX10, MARS2, ACTG2 , (...)

View the complete list with 148 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Mitochondriopathy – Chronic Progressive External Ophthalmoplegia (CPEO).

By MGZ Medical Genetics Center in Germany.

MGME1, TYMP, SPG7, TK2, POLG2, RRM2B, SLC25A4, POLG, TWNK
Specificity
12 %
Genes
17 %
Compare panel coverage
Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

TRIT1, PTCD1, VARS2, TARS2, RMND1, FLAD1, LYRM7, NDUFB9, ATP5F1A, UQCRC2, SERAC1, IBA57, MICU1, EIF2AK3, EARS2, TPK1, SCO1, COX10, MARS2, FBXL4 , (...)

View the complete list with 111 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Epilepsy.

By MGZ Medical Genetics Center in Germany.

TRIT1, PTCD1, VARS2, TARS2, PPT2, RMND1, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, FAM126A, POLR3B, POLR3A, NOL3, SERAC1, KCNH5, IBA57 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

HSPA9, TIMM44, NDUFB9, MIP, BCL2, CRBN, GSR, HADH, SCO1, COX10, LARS2, PDX1, BRIP1, SDHD, SDHA, PDHX, TMLHE, CPOX, OGG1, PPOX , (...)

View the complete list with 160 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
SPG7.

By Centogene AG - the Rare Disease Company in Germany.

SPG7
Specificity
100 %
Genes
17 %
Compare panel coverage
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH in Germany.

PRPH, ADD3, VPS54, KLC4, FLRT1, ARSI, ATP2B4, ARHGEF28, KANK1, HNRNPA1, HNRNPA2B1, AIMP1, FAM126A, STUB1, GRID2, SLC1A4, AMPD2, CCDC88C, ARL6IP1, IBA57 , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

CYC1, NDUFB9, MPC1, ATP5F1A, YWHAE, UQCRC2, DECR1, CHCHD10, PET100, COA5, SERAC1, COX20, SLC25A1, IBA57, HOGA1, COQ8B, IDH1, HADH, EARS2, TPK1 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Optic Atrophy Panel.

By CeGaT GmbH in Germany.

VAX2, RTN4IP1, SLC25A46, NR2F1, TIMM8A, CISD2, SPG7, TMEM126A, ACO2, OPA3, MFN2, AFG3L2, WFS1, OPA1, C12orf65
Specificity
7 %
Genes
17 %
Compare panel coverage
Single gene testing SPG7.

By CeGaT GmbH in Germany.

SPG7
Specificity
100 %
Genes
17 %
Compare panel coverage
Ataxia, autosomal dominant and X-linked Panel.

By CeGaT GmbH in Germany.

NOP56, TMEM240, ELOVL5, BEAN1, CACNA1G, CCDC88C, VLDLR, ATP1A3, SPTBN2, TTBK2, KCNC3, FGF14, PDYN, TGM6, KCND3, EEF2, VAMP1, ITPR1, SLC1A3, CACNB4 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
17 %
Compare panel coverage
Ataxia, autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

CWF19L1, SNX14, PMPCA, RUBCN, SLC9A1, STUB1, RNF216, PIK3R5, GRID2, ATCAY, ATP2B3, ATP8A2, UBA5, CA8, DNAJC3, MARS2, CP, KIF1C, PEX10, PNKP , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
17 %
Compare panel coverage
Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

KLC4, SLC1A4, AMPD2, ARL6IP1, IBA57, CCT5, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, VPS37A, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, B4GALNT1, C19orf12, NT5C2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
17 %
Compare panel coverage
Mitochondrial Diseases (mtDNA and 133 nuclear genes).

By Asper Biogene Asper Biogene LLC in Estonia.

NDUFB9, COA5, HADH, SCO1, COX10, SLC19A3, SETX, PDX1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, TACO1, SOD1, APTX, SLC25A20, COX6B1, FASTKD2, LRPPRC , (...)

View the complete list with 112 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Hereditary Spastic Paraplegia.

By Asper Biogene Asper Biogene LLC in Estonia.

AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, VPS37A, TECPR2, DDHD2, CYP2U1, GBA2, B4GALNT1, SLC16A2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
17 %
Compare panel coverage
Spastic Paraplegia 7.

By Praxis fuer Humangenetik Wien in Austria.

SPG7
Specificity
100 %
Genes
17 %
Compare panel coverage
SPG7 Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

SPG7
Specificity
100 %
Genes
17 %
Compare panel coverage
Spastic Paraplegia 7.

By MedGene in Slovakia.

SPG7
Specificity
100 %
Genes
17 %
Compare panel coverage
Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel.

By Invitae in United States.

AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, B4GALNT1, KIF1C, NT5C2, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
17 %
Compare panel coverage
Invitae Hereditary Spastic Paraplegia Comprehensive Panel.

By Invitae in United States.

AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, B4GALNT1, KIF1C, NT5C2, SLC16A2, KDM5C, VAMP1, ALS2, SPG21, SPART, FA2H , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
17 %
Compare panel coverage
Spastic paraplegia 7: SPG7 (PGN) gene sequence analysis.

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

SPG7
Specificity
100 %
Genes
17 %
Compare panel coverage
SPASTIC PARAPLEGIA A.R.

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

ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, C19orf12, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, L1CAM, SPG11, ZFYVE26, GJC2, GAD1, SPG7 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
17 %
Compare panel coverage
Optic atrophy.

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

NDUFS1, TIMM8A, CISD2, SPG7, TMEM126A, OPA3, MFN2, POLG, WFS1, OPA1, C12orf65, AUH
Specificity
9 %
Genes
17 %
Compare panel coverage
Hereditary Neuropathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, KCNC3, FGF14, ITPR1, SIL1 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
17 %
Compare panel coverage
Hereditary Neuropathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, KCNC3, FGF14, ITPR1, SIL1 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
17 %
Compare panel coverage
Spastic Paraplegia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZFYVE27, SLC16A2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, RTN2, WASHC5, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, SPG11, ZFYVE26, ATL1, PLP1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
17 %
Compare panel coverage
SPG7.

By Fulgent Genetics Fulgent Genetics in United States.

SPG7
Specificity
100 %
Genes
17 %
Compare panel coverage
Spastic Paraplegia Panel.

By Blueprint Genetics in Finland.

ATAD3A, DARS, RARS, IBA57, MARS2, COASY, AP4M1, AP4E1, AP4B1, AP4S1, DDHD1, DDHD2, CYP2U1, GBA2, B4GALNT1, C19orf12, HACE1, CAPN1, SLC16A2, CTNNB1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
17 %
Compare panel coverage
Ataxia Panel.

By Blueprint Genetics in Finland.

FDXR, CWF19L1, TMEM240, SNX14, WDR81, RUBCN, LMNB1, ITM2B, STUB1, RNF216, ELOVL5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, ATCAY, BEAN1, CAMTA1, ATP8A2 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Neuro-Ophthalmology Panel.

By Blueprint Genetics in Finland.

FDXR, SLC38A8, CHN1, ROBO3, ANTXR1, RTN4IP1, SLC25A46, SALL4, PRPS1, NR2F1, SETX, KIF21A, HESX1, SOX2, APTX, NDUFS1, TIMM8A, FRMD7, PHOX2A, TYMP , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
17 %
Compare panel coverage
Optic Atrophy Panel.

By Blueprint Genetics in Finland.

FDXR, SNX10, RTN4IP1, SLC52A2, SLC25A46, PRPS1, NR2F1, NDUFS1, TIMM8A, CISD2, SPG7, TMEM126A, ACO2, OPA3, MFN2, POLG, WFS1, OPA1, C12orf65
Specificity
6 %
Genes
17 %
Compare panel coverage
Mitochondrial DNA Depletion Syndrome Panel.

By Blueprint Genetics in Finland.

FBXL4, APTX, SUCLG1, NDUFS1, MPV17, TIMM8A, TYMP, SPG7, TK2, POLG2, SLC25A3, SUCLA2, TMEM126A, DGUOK, AGK, OPA3, MFN2, RRM2B, SLC25A4, POLG , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
17 %
Compare panel coverage
Spastic paraplegia 7, autosomal recessive.

By Bioarray in Spain.

SPG7
Specificity
100 %
Genes
17 %
Compare panel coverage
SPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

SPART, AP5Z1, CYP7B1, PNPLA6, SPG11, ZFYVE26, SPG7
Specificity
15 %
Genes
17 %
Compare panel coverage
Familial Spastic Paraplegia Type 7 , Sequencing SPG7 Gene.

By Reference Laboratory Genetics in Spain.

SPG7
Specificity
100 %
Genes
17 %
Compare panel coverage
Autosomal Recessive Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

ALS2, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, SPG11, GJC2, SPG7
Specificity
10 %
Genes
17 %
Compare panel coverage
Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes.

By Reference Laboratory Genetics in Spain.

ALS2, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, WASHC5, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, SPG11, ZFYVE26, ATL1, PLP1, GJC2, SPG7 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
17 %
Compare panel coverage
Spastic Paraplegia 7: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SPG7
Specificity
100 %
Genes
17 %
Compare panel coverage
Spastic Paraplegia 7: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SPG7
Specificity
100 %
Genes
17 %
Compare panel coverage
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

MTCP1, HOXD11, HIST1H4I, TLX1, CCDC6, CBFA2T3, FSTL3, RMI2, TPM4, C15orf65, OLIG2, COX6C, HLF, MLLT6, SEPT6, TAL2, HOXC11, LMO2, FNBP1, RAP1GDS1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage
Tempus xO assay.

By Tempus Labs, Inc. in United States.

PRDM15, E2F1, CEBPB, AREG, PRKACB, PBX4, KAT5, FGF13, NFKBIB, PGF, SRMS, BBC3, SMURF1, FOSB, GUCY1A2, PHLPP1, SSTR4, ARTN, WNK2, ZC3H12D , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
17 %
Compare panel coverage

Alternate names

16q24.3 Microdeletion Syndrome Is also known as 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder..



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