Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).
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Panel Name, Specifity and genes Tested/covered |
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![]() By Genetic Services Laboratory University of Chicago (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
Specificity
1 %
Genes
100 % |
![]() By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL , (...)
View the complete list with 85 more genes
Specificity
1 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
RUNX1, BLM, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, BUB1B, EPCAM, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC , (...)
View the complete list with 68 more genes
Specificity
2 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
XPA, XPC, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH
Specificity
12 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
ERCC5
Specificity
100 %
Genes
100 % |
![]() By Connective Tissue Gene Tests (United States).
XPA, XPC, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH
Specificity
12 %
Genes
100 % |
![]() By Connective Tissue Gene Tests (United States).
XPA, XPC, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH
Specificity
12 %
Genes
100 % |
![]() By Connective Tissue Gene Tests (United States).
XPA, XPC, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH
Specificity
12 %
Genes
100 % |
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