Seckel Syndrome 6; Sckl6

Clinical Features

Phenotypes and symptoms related to Seckel Syndrome 6; Sckl6

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Motor delay
  • Delayed speech and language development

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Seckel Syndrome 6; Sckl6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Autosomal Recessive Primary Microcephaly Tier 2 panel.

By Genetic Services Laboratory University of Chicago in United States.

SLC25A19, WDR62, MCPH1, ARFGEF2, CENPJ, NDE1, STIL, PNKP, CEP152, CDK5RAP2, CENPF, STAMBP, MED17, CIT, AGMO, SASS6, MFSD2A, CENPE, PHC1, CDK6 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Seckel Syndrome Panel.

By Genetic Services Laboratory University of Chicago in United States.

CENPJ, CEP152, PCNT, ATR, DNA2, RBBP8, LIG4, CEP63, TRAIP, NIN
Specificity
10 %
Genes
100 %
Comprehensive Primordial Dwarfism Panel.

By Genetic Services Laboratory University of Chicago in United States.

CENPJ, CEP152, CDK5RAP2, PCNT, ATR, DNA2, TRIM37, RBBP8, LIG4, RTTN, CUL7, SASS6, CEP63, TRAIP, ORC1, GMNN, CDC6, CDT1, ORC6, ORC4 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Microcephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Microcephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Seckel syndrome type 6 (sequence analysis of CEP63 gene).

By CGC Genetics in Portugal.

CEP63
Specificity
100 %
Genes
100 %
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).

By CGC Genetics in Portugal.

SLC25A19, DNM1L, RARS2, WDR62, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, DYRK1A, PNKP, OPHN1 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Microcephalic primordial dwarfism Comprehensive panel.

By Connective Tissue Gene Tests in United States.

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

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Microcephalic primordial dwarfism Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

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

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Microcephalic primordial dwarfism NGS panel.

By Connective Tissue Gene Tests in United States.

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

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Microcephaly.

By Institute of Human Genetics Cologne University in Germany.

WDR62, MCPH1, ASPM, CENPJ, STIL, PNKP, CEP152, CDK5RAP2, ZNF335, CEP135, KNL1, CEP63
Specificity
9 %
Genes
100 %
Microcephaly CEP63 related.

By Centogene AG - the Rare Disease Company in Germany.

CEP63
Specificity
100 %
Genes
100 %
Microcephaly panel.

By Centogene AG - the Rare Disease Company in Germany.

SLC25A19, DNM1L, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Seckel syndrome 6.

By Centogene AG - the Rare Disease Company in Germany.

CEP63
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By CeGaT GmbH in Germany.

SLC25A19, RARS2, WDR62, DYNC1H1, VRK1, MCPH1, ASPM, MBD5, CENPJ, PQBP1, TSEN54, STIL, DYRK1A, PNKP, CASK, EXOSC3, TSEN34, TSEN2, CEP152, CDK5RAP2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By CeGaT GmbH in Germany.

SLC25A19, RARS2, WDR62, DYNC1H1, VRK1, MCPH1, ASPM, MBD5, CENPJ, PQBP1, TSEN54, STIL, DYRK1A, PNKP, CASK, EXOSC3, TSEN34, TSEN2, CEP152, CDK5RAP2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Single gene testing CEP63.

By CeGaT GmbH in Germany.

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

By CeGaT GmbH in Germany.

RECQL4, LMX1B, FGFR3, CREBBP, FGFR2, CDKN1C, CENPJ, SALL1, CEP152, PCNT, ATR, GDF6, SH3PXD2B, DNA2, FGF10, SALL4, TBX5, EP300, RBBP8, GDF3 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Microcephaly.

By Asper Biogene Asper Biogene LLC in Estonia.

SLC25A19, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1, NHEJ1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
100 %
Microcephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders.

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

WDR62, MCPH1, ASPM, CENPJ, STIL, CEP152, CDK5RAP2, ATR, RBBP8, CDK6, CEP135, KNL1, CEP63
Specificity
8 %
Genes
100 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
Microcephaly NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SLC25A19, DNM1L, RARS2, WDR62, MRE11, VRK1, POMT1, MCPH1, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, TSEN34, TSEN2, CEP152 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Primordial Dwarfism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CENPJ, CEP152, PCNT, ATR, RBBP8, CEP63, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC
Specificity
9 %
Genes
100 %
CEP63.

By Fulgent Genetics Fulgent Genetics in United States.

CEP63
Specificity
100 %
Genes
100 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By Blueprint Genetics in Finland.

RARS2, GFM1, WDR62, MRE11, PHGDH, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, KANSL1, DYRK1A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

BCS1L, PITX2, OTX2, RAF1, SOX2, HESX1, FGFR3, BRAF, CREBBP, DHCR7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, HDAC8, RIT1, MAP2K2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
3-M Syndrome / Primordial Dwarfism Panel.

By Blueprint Genetics in Finland.

BCS1L, CENPJ, CEP152, PCNT, ATR, TRIM37, RBBP8, NOTCH2, SRCAP, RTTN, CUL7, CEP63, CDC45, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Seckel Syndrome Panel.

By Blueprint Genetics in Finland.

CENPJ, CEP152, PCNT, ATR, RBBP8, CEP63
Specificity
17 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Seckel Syndrome NGS and Deletion/Duplication Panel.

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

CENPJ, CEP152, ATR, RBBP8, CEP63
Specificity
20 %
Genes
100 %
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
100 %
SYNDROME DE SECKEL: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

CENPJ, CEP152, ATR, DNA2, RBBP8, CEP63, NIN
Specificity
15 %
Genes
100 %
SECKEL SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

CENPJ, CEP152, ATR, DNA2, RBBP8, CEP63
Specificity
17 %
Genes
100 %
Seckel Syndrome, Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

CENPJ, CEP152, ATR, RBBP8, CEP63
Specificity
20 %
Genes
100 %
Primordial Dwarfism and Related Disorders , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

CENPJ, CEP152, PCNT, ATR, RBBP8, CEP63, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC
Specificity
9 %
Genes
100 %
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

WDR62, MCPH1, ASPM, CENPJ, STIL, CEP152, CDK5RAP2, ATR, RBBP8, PHC1, CDK6, CEP135, KNL1, CEP63, NIN, ATRIP
Specificity
7 %
Genes
100 %


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