Cohen-gibson Syndrome; Cogis

Table of contents:

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

Description

Cohen-Gibson syndrome is an overgrowth disorder characterized by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. Other features may include hypotonia, difficulty walking due to skeletal anomalies, and umbilical hernia (summary by Cooney et al., 2017).

Genes related to Cohen-gibson Syndrome; Cogis

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Clinical Features

Top most frequent phenotypes and symptoms related to Cohen-gibson Syndrome; Cogis

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Scoliosis
Hypertelorism
Abnormal facial shape
Cleft palate
Cataract
Cryptorchidism

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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.

Cohen-gibson Syndrome; Cogis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Weaver and Cohen-Gibson syndrome NGS panel. By Connective Tissue Gene Tests (United States). EED, EZH2 Specificity 50 % Genes 100 %
Overgrowth syndrome NGS panel. By Connective Tissue Gene Tests (United States). NSD1, SETD2, OFD1, DNMT3A, EED, EZH2, FBN1, GPC3, NFIX, PDGFRB, PIGA Specificity 10 % Genes 100 %
Overgrowth syndrome Comprehensive panel. By Connective Tissue Gene Tests (United States). NSD1, SETD2, OFD1, DNMT3A, EED, EZH2, FBN1, GPC3, NFIX, PDGFRB, PIGA Specificity 10 % Genes 100 %
Weaver and Cohen-Gibson syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). EED, EZH2 Specificity 50 % Genes 100 %
Overgrowth syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). NSD1, SETD2, OFD1, DNMT3A, EED, EZH2, FBN1, GPC3, NFIX, PDGFRB, PIGA Specificity 10 % Genes 100 %
Weaver and Cohen-Gibson syndrome Comprehensive panel. By Connective Tissue Gene Tests (United States). EED, EZH2 Specificity 50 % Genes 100 %
Macrocephaly / Overgrowth Syndrome Panel. By Blueprint Genetics (Finland). SYN1, MED12, TSC1, TSC2, NSD1, CCND2, RAB39B, MLC1, BRWD3, CDKN1C, SETD2, CHD8, UPF3B, RNF135, CUL4B, OFD1, HEPACAM, DHCR24, DIS3L2, WASHC5 , (...) View the complete list with 23 more genes Panel complete gene list SYN1, MED12, TSC1, TSC2, NSD1, CCND2, RAB39B, MLC1, BRWD3, CDKN1C, SETD2, CHD8, UPF3B, RNF135, CUL4B, OFD1, HEPACAM, DHCR24, DIS3L2, WASHC5, GPSM2, DNMT3A, KIF7, HUWE1, EED, EIF2B5, EZH2, AKT1, AKT3, GFAP, GLI3, GPC3, GRIA3, KPTN, L1CAM, MPDZ, ASPA, NFIX, PIGA, PIK3CA, PIK3R2, PTCH1, PTEN Specificity 3 % Genes 100 %
FoundationOne® Heme. By Foundation Medicine, Inc. (United States). BCL6, BCL7A, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, SRSF2, SGK1, FOXL2, BRAF, BRCA1, BRCA2, SMARCA1, SMARCA4, SMARCB1, ARID1A , (...) View the complete list with 374 more genes Panel complete gene list BCL6, BCL7A, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, SRSF2, SGK1, FOXL2, BRAF, BRCA1, BRCA2, SMARCA1, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMO, SOX10, SOX2, SPOP, SRC, BTG2, BTK, STAG2, STAT3, STAT4, STAT5A, STAT5B, STAT6, STK11, AURKB, AURKA, TAF1, HNF1A, TCF3, TCL1A, TGFBR2, NKX2-1, TLL2, TMSB4X, TNFAIP3, TNFRSF11A, TNFRSF14, TNFRSF17, FAS, CD70, MED12, TOP1, TP53, TRAF2, TRAF3, TRAF5, TSC1, TSC2, TYK2, U2AF1, KDM6A, VHL, NSD2, CCN6, WT1, XBP1, XPO1, ZNF217, KAT6A, ZNF24, ZMYM3, IKZF1, IKZF2, IKZF3, ACTB, BCL11B, PCLO, PDCD11, BRD4, FBXO11, KDM2B, GTSE1, CTCF, KMT2C, HIST1H2BK, HDAC4, HDAC7, CIC, CAD, CRLF2, IKBKE, CBFB, CBL, P2RY8, SETBP1, CCND1, CCND2, CCND3, CCNE1, TP63, CCT6B, NOD1, CARD11, CD22, SUFU, FBXO31, CD36, TMEM30A, FBXW7, CDC73, CD58, FRS2, CD79A, CD79B, KDM4C, ARHGAP26, NCSTN, SUZ12, PASK, POT1, CDH1, SPEN, CD274, CDK4, CDK6, CDK8, ADGRA2, CDKN1B, CDKN2A, CDKN2B, CDKN2C, ARID2, EMSY, PHF6, ELP2, ASXL1, CEBPA, SETD2, RNF43, LRRK2, KLHL6, PDCD1LG2, BRSK1, EXOSC6, CKS1B, CHD2, CHEK1, SOCS2, SOCS1, SOCS3, BRIP1, FANCL, BCOR, MIB1, BTLA, ICK, ZRSR2, U2AF2, KEAP1, CREBBP, CRKL, CDK12, RASGEF1A, CSF1R, CSF3R, SMC3, TENT5C, DOT1L, CTNNA1, CTNNB1, CUX1, CXCR4, BCORL1, ZNF703, TET2, PALB2, DAXX, AMER1, DDR2, FLCN, DDX3X, GID4, RICTOR, NUP93, APH1A, TBL1XR1, DNM2, DNMT3A, PAG1, PBRM1, TUSC3, RPTOR, DTX1, DUSP2, DUSP9, YY1AP1, MYO18A, EBF1, S1PR2, EED, EGFR, EP300, EPHA3, EPHA5, EPHA7, EPHB1, ERBB2, ERBB3, ERBB4, ERG, ETS1, ETV6, EZH2, FAF1, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FGF10, FGF14, FGF19, FGF23, FGF3, FGF4, FGF6, FGFR1, FGFR2, FGFR3, FGFR4, FHIT, FLT1, FLT3, FLT4, FOXO1, FOXO3, FOXP1, AKT1, AKT2, AKT3, MTOR, GADD45B, GATA1, GATA2, GATA3, ALK, GNA11, GNA12, GNA13, GNAQ, GNAS, GRIN2A, GSK3B, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H2AL, HIST1H2AC, HIST1H2AM, HIST1H2AG, HIST1H2BC, HIST1H2BO, HIST1H2BJ, HIST1H3B, HDAC1, HGF, HRAS, HSP90AA1, IRF8, ID3, IDH1, IDH2, IGF1R, APC, BIRC3, IL7R, INHBA, INPP4B, INPP5D, IRF1, IRF4, IRS2, JAK1, JAK2, JAK3, JARID2, JUN, KDR, KIT, KRAS, MAFB, AR, ARAF, ARFRP1, RHOA, LRP1B, SMAD2, SMAD4, MAF, MAGED1, MALT1, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K14, MAP3K6, MAP3K7, MAPK1, MCL1, MDM2, MDM4, MEF2B, MEF2C, MEN1, MET, CIITA, MITF, MKI67, MLH1, KMT2D, MPL, MRE11, MSH2, MSH3, MSH6, ASMTL, MUTYH, MYC, MYCL, MYCN, MYD88, ABL1, NCOR2, NF1, NF2, NFE2L2, NFKBIA, NOTCH1, NOTCH2, NPM1, ATM, NRAS, NT5C2, NTRK1, NTRK2, NTRK3, NUP98, PAK3, PAX5, PC, PCBP1, PDCD1, PDGFRA, PDGFRB, PDK1, ATR, ATRX, PIK3CA, PIK3CG, PIK3R1, PIK3R2, PIM1, AXIN1, AXL, PLCG2, B2M, PPP2R1A, PRDM1, PRKAR1A, PRKDC, PRSS8, BAP1, BARD1, PTCH1, PTEN, PTPN11, PTPN2, PTPN6, PTPRO, RAD21, RAD50, RAD51, RAF1, RARA, RB1, KDM5A, BCL10, BCL2L2, RELN, RET Specificity 1 % Genes 100 %

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Sources and references

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