Seckel Syndrome 6; Sckl6

Clinical Features

Phenotypes and symptoms related to Seckel Syndrome 6; Sckl6

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

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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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 (United States).

STIL, SLC25A19, ZNF335, ARFGEF2, STAMBP, CENPJ, NDE1, CDK6, CENPE, CENPF, CDK5RAP2, CIT, MED17, KNL1, WDR62, SASS6, CEP63, MFSD2A, CEP135, CEP152 , (...)

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

By Genetic Services Laboratory University of Chicago (United States).

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

By Genetic Services Laboratory University of Chicago (United States).

PLK4, XRCC4, CRIPT, PCNT, ORC6, CENPJ, CDC6, GMNN, RTTN, CDK5RAP2, CUL7, POC1A, CDT1, LARP7, CCDC8, SASS6, CEP63, OBSL1, CEP152, DNA2 , (...)

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

By Genetic Services Laboratory University of Chicago (United States).

STIL, SLC2A1, SLC9A6, PLK4, CDKL5, TCF4, UBE3A, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP , (...)

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

By Genetic Services Laboratory University of Chicago (United States).

STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335 , (...)

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

By CGC Genetics (Portugal).

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

By CGC Genetics (Portugal).

STIL, BUB1B, TUBG1, VRK1, SLC25A19, NIN, CASK, TSEN34, ZNF335, PCNT, STAMBP, CLP1, CENPJ, NDE1, EXOSC3, TUBGCP6, IER3IP1, CDK5RAP2, ASPM, MBD5 , (...)

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

By Connective Tissue Gene Tests (United States).

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

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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