Cerebrooculofacioskeletal Syndrome 2; Cofs2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Cerebrooculofacioskeletal Syndrome 2; Cofs2

ERCC2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Cerebrooculofacioskeletal Syndrome 2; Cofs2

Global developmental delay
Hearing impairment
Microcephaly
Growth delay
Micrognathia
Cataract
Flexion contracture
Intrauterine growth retardation
Microphthalmia
Micropenis

And another 12 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (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.

Cerebrooculofacioskeletal Syndrome 2; Cofs2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc (United States). BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...) View the complete list with 149 more genes Panel complete gene list BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ACTB, ESPN, CLIC5, BDP1, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15, P2RX2, DIAPH3, ANKH, OSBPL2, ABHD12, STRC, CD151, CD164, USH1G, WHRN, OTOA, NLRP3, SLC4A11, BSND, TMC1, TRIOBP, LARS2, CDC14A, CHSY1, ADGRV1, HOMER2, CCDC50, DCDC2, GIPC3, SLC17A8, POLR1C, CLDN14, POLR1D, CHD7, CLPP, LHFPL5, EPS8L2, DIABLO, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, PNPT1, ADCY1, MYH14, SLITRK6, CRYM, CISD2, CIB2, LRTOMT, ELMOD3, PDZD7, NARS2, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, TMEM132E, GRHL2, GSDME, ILDR1, DIAPH1, DLX5, TBC1D24, CEMIP, PJVK, DNMT1, DSPP, TMIE, MIR96, GRXCR1, S1PR2, EDN3, EDNRA, EDNRB, CEACAM16, GRXCR2, EPS8, ERCC2, ERCC3, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, ALMS1, GJB2, GJB6, HARS2, HGF, HOXB1, HSD17B4, TNC, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, MANBA, MCM2, MET, MT-TS1, MT-TS2, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NR2F1, OPA1, ATP2B2, OTOF, OTOG, ATP6V1B1, ATP6V1B2, PAX3, AIFM1, SLC26A4, PEX1, PEX6, SERPINB6, PMP22, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX Specificity 1 % Genes 100 %
ERCC2. By Institute for Human Genetics University Clinic Freiburg (Germany). ERCC2 Specificity 100 % Genes 100 %
ERCC2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). ERCC2 Specificity 100 % Genes 100 %
CHOP Comprehensive Hereditary Cancer Panel. 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 Panel complete gene list RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL, CDC73, HAX1, DICER1, ARID5B, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEBPE, DDX41, DOCK8, SBDS, BRIP1, RHBDF2, COL7A1, G6PC3, CYLD, SDHAF2, PALB2, DDB2, FLCN, DIS3L2, DKC1, EGFR, ELANE, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, EXT1, EXT2, FAH, FANCA, FANCC, FANCG, FH, GATA2, GBA, ABCB11, ALK, GJB2, GPC3, HFE, HMBS, HRAS, APC, ITK, KIT, SMAD4, MAX, MEN1, MET, MLH1, MPL, MSH2, MSH6, MTAP, MUTYH, NBN, NF1, NF2, ATM, PAX5, PDGFRA, SERPINA1, AXIN2, PMS2, PHOX2B, POLD1, POLE, POLH, PRKAR1A, PRSS1, BAP1, PTCH1, PTEN, PTPN11, RAD51C, RAD51D, RB1, RECQL4, RET Specificity 1 % Genes 100 %
Trichothiodystrophy (sequence analysis of ERCC2 gene). By CGC Genetics (Portugal). ERCC2 Specificity 100 % Genes 100 %
OncoRisk Plus (NGS panel for 89 genes). 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 Panel complete gene list RUNX1, BLM, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, BUB1B, EPCAM, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC, NSD1, SUFU, CDC73, DICER1, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, SBDS, BRIP1, FANCL, FANCM, SLX4, FANCI, CYLD, SDHAF2, TMEM127, PALB2, DDB2, FLCN, DIS3L2, CEP57, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, AIP, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FH, GATA2, ALK, GPC3, APC, KIT, SMAD4, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, ATM, PMS2, PHOX2B, PRF1, PRKAR1A, BAP1, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL4, RET Specificity 2 % Genes 100 %
Trichothiodystrophy (NGS panel of 5 genes). By CGC Genetics (Portugal). RNF113A, MPLKIP, GTF2H5, ERCC2, ERCC3 Specificity 20 % Genes 100 %
Xeroderma Pigmentosum Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). XPA, XPC, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH Specificity 12 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

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