Genes in panel
- ABCC6 0
- ABCC8 0
- ABCC9 0
- ABCD1 0
- ABCG5 0
- ACADSB 0
- ACAT1 0
- ACO2 0
- ACOX1 0
- ACSL4 0
- ACTL6A 0
- ACY1 0
- ADAR 0
- ADNP 0
- ADSL 0
- AFF2 0
- AFF3 0
- AFP 0
- AGL 0
- AGT 0
- AGTR2 0
- AHDC1 0
- AHI1 0
- AIFM1 0
- AKAP6 0
- AKT3 0
- ALDH18A1 0
- ALDH4A1 0
- ALDH5A1 0
- ALG1 0
- ALG11 0
- ALG12 0
- ALG13 0
- ALG2 0
- ALG3 0
- ALG6 0
- ALG8 0
- ALG9 0
- ALX4 0
- AMER1 0
- ANK3 0
- ANKRD11 0
- AP1S1 0
- AP1S2 0
- AP3B1 0
- AP4B1 0
- AP4E1 0
- AP4M1 0
- AP4S1 0
- APOPT1 1
- AQP7 0
- AR 0
- ARCN1 0
- ARG1 0
- ARHGEF6 0
- ARHGEF9 0
- ARID1A 0
- ARID1B 0
- ARID2 0
- ARV1 0
- ARX 0
- ASH1L 0
- ASMT 0
- ASPH 0
- ASPM 0
- ASS1 0
- ASXL2 0
- ASXL3 0
- ATIC 0
- ATL1 0
- ATM 0
- ATP1A2 0
- ATP6AP2 0
- ATP7A 0
- ATRX 0
- AUH 0
- AUTS2 0
- AVP 0
- AVPR2 0
- B4GALT1 0
- BBS1 0
- BBS10 0
- BBS12 0
- BBS2 0
- BBS4 0
- BBS5 0
- BBS7 0
- BBS9 0
- BCKDK 0
- BCL11A 0
- BCOR 0
- BCS1L 0
- BIN1 0
- BPTF 0
- BRAF 0
- BRF1 0
- BRIP1 0
- BRPF1 0
- BRWD3 0
- BUB1B 0
- C12orf4 0
- C12orf57 0
- C2CD3 0
- C3orf58 1
- CA5A 0
- CACNA1C 0
- CACNA1F 0
- CACNA1H 0
- CACNA2D3 0
- CACNG2 0
- CAMK2A 0
- CAMK2B 0
- CAMTA1 0
- CANT1 0
- CASK 0
- CBS 0
- CC2D1A 0
- CC2D2A 0
- CCDC22 0
- CCDC88A 0
- CCDC88C 0
- CCND2 0
- CDC42 0
- CDH15 0
- CDK10 0
- CDK13 0
- CDK5R1 0
- CDK5RAP2 0
- CDKL5 0
- CDKN1C 0
- CENPF 0
- CENPJ 0
- CEP290 0
- CEP41 0
- CEP57 0
- CEP83 0
- CHD2 0
- CHD4 0
- CHD7 0
- CHD8 0
- CHKB 0
- CHRNA4 0
- CIC 0
- CKAP2L 0
- CLIC2 0
- CLN3 0
- CLPB 0
- CLPP 0
- CNKSR2 0
- CNOT3 0
- CNTN3 0
- CNTN4 0
- CNTNAP2 0
- COA3 0
- COASY 0
- COG1 0
- COG4 0
- COG5 0
- COG7 0
- COG8 0
- COL1A2 0
- COL25A1 0
- COLEC10 0
- COQ4 0
- COQ5 0
- CP 0
- CPA6 0
- CPD 0
- CPS1 0
- CRADD 0
- CRBN 0
- CREBBP 0
- CSNK2A1 0
- CSNK2B 0
- CSPP1 0
- CTC1 0
- CTCF 0
- CTNNB1 0
- CTNND2 0
- CTSA 0
- CUL3 0
- CUL4B 0
- CWC27 0
- CYB5R3 0
- CYP27A1 0
- D2HGDH 0
- DAB1 0
- DARS2 0
- DBT 0
- DCX 0
- DDOST 0
- DDX3X 0
- DDX58 0
- DEAF1 0
- DHCR24 0
- DHCR7 0
- DHX30 0
- DIP2B 0
- DIS3L2 0
- DKC1 0
- DLG3 0
- DLGAP2 0
- DMD 0
- DNAJC12 0
- DNAJC3 0
- DNM1 0
- DNMT3A 0
- DOCK3 0
- DOCK7 0
- DOCK8 0
- DOLK 0
- DPAGT1 0
- DPM2 0
- DPM3 0
- DPYD 0
- DRD2 0
- DSCAM 0
- DYNC1H1 0
- DYRK1A 0
- EBF3 0
- EBP 0
- EED 0
- EEF1A2 0
- EFNB1 0
- EHMT1 0
- EIF2S3 0
- EIF4A3 0
- ELOVL4 0
- EN2 0
- EP300 0
- EPB41L1 0
- ERCC2 0
- ERCC3 0
- ERCC5 0
- ERCC6 0
- ERCC8 0
- ETHE1 0
- EXTL3 0
- EZH2 0
- F5 0
- FAM126A 0
- FANCB 0
- FANCG 0
- FAR1 0
- FBLN5 0
- FBN1 0
- FBN2 0
- FDXR 0
- FGD1 0
- FGF14 0
- FGFR1 0
- FGFR2 0
- FGFR3 0
- FIBP 0
- FKRP 0
- FKTN 0
- FLNA 0
- FMN2 0
- FMR1 0
- FOLR1 0
- FOXG1 0
- FOXP1 0
- FOXP2 0
- FTO 0
- FTSJ1 0
- FZD3 0
- G6PC3 0
- GABRA5 0
- GABRG2 0
- GABRG3 0
- GALE 0
- GAMT 0
- GAN 0
- GATM 0
- GBA 0
- GBE1 0
- GCK 0
- GDI1 0
- GEMIN4 0
- GFAP 0
- GFM1 0
- GHR 0
- GIGYF2 0
- GK 0
- GLI2 0
- GLI3 0
- GLRA1 0
- GLUL 0
- GLYCTK 0
- GM2A 0
- GNAI1 0
- GNAS 0
- GNB1 0
- GNPAT 0
- GNPTAB 0
- GNPTG 0
- GPAA1 0
- GPC3 0
- GRIA3 0
- GRIA4 0
- GRIK2 0
- GRIN1 0
- GRIN2A 0
- GRIN2B 0
- GRIP1 0
- GRM1 0
- GSS 0
- GTF3C3 0
- GTPBP3 0
- GUSB 0
- GYS2 0
- H3F3A 1
- H3F3B 1
- HACE1 0
- HARS2 0
- HAX1 0
- HCN1 0
- HDAC4 0
- HDAC8 0
- HECW2 0
- HEPACAM 0
- HERC2 0
- HEXB 0
- HIST1H1E 1
- HIST1H4C 1
- HNRNPH2 0
- HNRNPK 0
- HNRNPU 0
- HOXA1 0
- HOXD10 0
- HPD 0
- HPRT1 0
- HRAS 0
- HSD17B10 0
- HSPD1 0
- HUWE1 0
- IARS 1
- IDS 0
- IER3IP1 0
- IFIH1 0
- IGBP1 0
- IGF1 0
- IGF1R 0
- IL1RAPL1 0
- ILF2 0
- INPP5K 0
- INSR 0
- INTS1 0
- INTS6 0
- INTS8 0
- IQSEC2 0
- IRX5 0
- ISCA2 0
- ITGA7 0
- ITPA 0
- ITPR1 0
- KANSL1 0
- KAT5 0
- KAT6A 0
- KATNAL2 0
- KCNC1 0
- KCNH1 0
- KCNJ10 0
- KCNJ11 0
- KCNJ6 0
- KCNK9 0
- KCNQ2 0
- KCNQ3 0
- KCNQ5 0
- KCTD3 0
- KCTD7 0
- KDM1A 0
- KDM3B 0
- KDM5B 0
- KDM5C 0
- KDM6A 0
- KIAA1109 0
- KIDINS220 0
- KIF11 0
- KIF14 0
- KIF1A 0
- KIF21A 0
- KIF4A 0
- KIF5A 0
- KIF5C 0
- KIF7 0
- KIRREL3 0
- KLHL7 0
- KMT2A 0
- KMT2C 0
- KMT2D 0
- KMT2E 0
- KMT5B 0
- KPTN 0
- KRAS 0
- L1CAM 0
- LAMA1 0
- LAMA2 0
- LAMC3 0
- LAMP2 0
- LARGE1 0
- LARS2 0
- LAS1L 0
- LBR 0
- LHX3 0
- LIG4 0
- LINS1 0
- LMBRD1 0
- LRP2 0
- LRP5 0
- LYST 0
- MADD 0
- MAGEL2 0
- MAGT1 0
- MAN1B1 0
- MAN2B1 0
- MANBA 0
- MAOA 0
- MAP2K2 0
- MAPT 0
- MAT1A 0
- MBD5 0
- MBOAT7 0
- MBTPS2 0
- MCCC1 0
- MCCC2 0
- MCM9 0
- MCOLN1 0
- MCPH1 0
- MECP2 0
- MED12 0
- MED13L 0
- MED17 0
- MED23 0
- MED25 0
- MEF2C 0
- MEIS2 0
- MET 0
- MFSD8 0
- MGAT2 0
- MICU1 0
- MID1 0
- MKKS 0
- MLYCD 0
- MMADHC 0
- MOCS2 0
- MOGS 0
- MPI 0
- MPZ 0
- MRAP 0
- MSL3 0
- MTFMT 0
- MTHFR 0
- MTOR 0
- MTR 0
- MYCN 0
- MYO5A 0
- MYT1L 0
- NAA10 0
- NAA15 0
- NACC1 0
- NAGA 0
- NALCN 0
- NBN 0
- NCKAP1 0
- NDP 0
- NDUFA1 0
- NDUFAF5 0
- NDUFS1 0
- NEXMIF 0
- NF1 0
- NFIX 0
- NGF 0
- NHEJ1 0
- NHP2 0
- NHS 0
- NIPBL 0
- NLGN3 0
- NLGN4X 0
- NONO 0
- NPC1 0
- NPC2 0
- NPHP3 0
- NPR3 0
- NR2F1 0
- NRXN1 0
- NSD1 0
- NSDHL 0
- NSUN2 0
- NTNG1 0
- NUP188 0
- OCRL 0
- OFD1 0
- OPHN1 0
- ORC1 0
- OTUD6B 0
- P4HB 0
- PACS1 0
- PAFAH1B1 0
- PAH 0
- PAK3 0
- PAX6 0
- PAX7 0
- PBX1 0
- PCCA 0
- PCCB 0
- PCDH10 0
- PCDH19 0
- PCLO 0
- PCNT 0
- PDE4D 0
- PDGFRB 0
- PDHX 0
- PDSS1 0
- PET100 0
- PEX7 0
- PGAP3 0
- PGK1 0
- PGM1 0
- PGM3 0
- PHF6 0
- PHF8 0
- PHKA2 0
- PHKG2 0
- PIEZO2 0
- PIGC 0
- PIGL 0
- PIGN 0
- PIGO 0
- PIGV 0
- PIGW 0
- PIGY 0
- PIK3CA 0
- PIK3R2 0
- PLA2G6 0
- PLAA 0
- PLK4 0
- PLP1 0
- PMM2 0
- PNKP 0
- PNPLA6 0
- POGLUT1 0
- POGZ 0
- POMGNT1 0
- POMT1 0
- POMT2 0
- PORCN 0
- POU1F1 0
- PPM1D 0
- PPOX 0
- PPP1R15B 0
- PPP1R1B 0
- PPP2R5D 0
- PPP3CA 0
- PQBP1 0
- PREPL 0
- PRICKLE1 0
- PRKAR1A 0
- PRKD1 0
- PRMT7 0
- PRODH 0
- PRPS1 0
- PRSS12 0
- PSAT1 0
- PSMD12 0
- PSPH 0
- PTCH1 0
- PTCHD1 0
- PTDSS1 0
- PTEN 0
- PTPN11 0
- PTPN23 0
- PUF60 0
- PURA 0
- PYCR1 0
- PYGL 0
- QARS 1
- QRICH1 0
- RAB11B 0
- RAB39B 0
- RAB40AL 0
- RAC1 0
- RAD21 0
- RAI1 0
- RANBP17 0
- RAPSN 0
- RARB 0
- RBBP8 0
- RBFOX1 0
- RBM10 0
- RELN 0
- RERE 0
- RFT1 0
- RFX6 0
- RHEB 0
- RIMS1 0
- RNF125 0
- RNF135 0
- RPGRIP1L 0
- RPL10 0
- RPS23 0
- RPS6KA3 0
- RTTN 0
- SACS 0
- SAMHD1 0
- SATB2 0
- SCN1A 0
- SCN2A 0
- SCN3A 0
- SCN8A 0
- SCN9A 0
- SDCCAG8 0
- SELENOI 0
- SET 0
- SETBP1 0
- SETD1B 0
- SETD2 0
- SETD5 0
- SGCA 0
- SGSH 0
- SHANK2 0
- SHANK3 0
- SHROOM4 0
- SIL1 0
- SIN3A 0
- SLC12A6 0
- SLC13A5 0
- SLC16A2 0
- SLC20A2 0
- SLC25A12 0
- SLC25A13 0
- SLC25A15 0
- SLC25A24 0
- SLC2A1 0
- SLC2A2 0
- SLC35A1 0
- SLC35C1 0
- SLC39A14 0
- SLC45A1 0
- SLC46A1 0
- SLC4A4 0
- SLC5A2 0
- SLC5A5 0
- SLC6A1 0
- SLC6A17 0
- SLC6A4 0
- SLC6A8 0
- SLC7A7 0
- SLC9A6 0
- SLC9A9 0
- SLX4 0
- SMARCA2 0
- SMARCA4 0
- SMARCB1 0
- SMARCE1 0
- SMC1A 0
- SMC3 0
- SMS 0
- SNIP1 0
- SNORD118 0
- SNX14 0
- SOBP 0
- SON 0
- SOX10 0
- SOX2 0
- SOX3 0
- SOX5 0
- SPAST 0
- SPECC1L 0
- SPR 0
- SPRTN 0
- SPTAN1 0
- SPTLC1 0
- SRCAP 0
- SRD5A3 0
- SRPX2 0
- SSR4 0
- ST3GAL3 0
- STAG1 0
- STAT5B 0
- STIL 0
- STRA6 0
- STX11 0
- STX1B 0
- STXBP1 0
- SUCLG1 0
- SYN1 0
- SYNE1 0
- SYNGAP1 0
- SYP 0
- SYT14 0
- TAF1 0
- TAF13 0
- TAF2 0
- TAF6 0
- TAOK1 0
- TBC1D23 0
- TBC1D24 0
- TBCD 0
- TBCE 0
- TBCK 0
- TBL1XR1 0
- TBR1 0
- TBX1 0
- TCF20 0
- TCF4 0
- TECR 0
- TFE3 0
- TGDS 0
- TGIF1 0
- TH 0
- THOC6 0
- THRB 0
- TINF2 0
- TLK2 0
- TMCO1 0
- TMEM165 0
- TMEM216 0
- TMEM260 0
- TMEM67 0
- TMEM70 0
- TMLHE 0
- TNIK 0
- TNRC6B 0
- TPH2 0
- TPK1 0
- TRAK1 0
- TRAPPC12 0
- TRAPPC6B 0
- TRAPPC9 0
- TRHR 0
- TRIO 0
- TRIP12 0
- TRIP13 0
- TRIT1 0
- TRMT10A 0
- TSC1 0
- TSC2 0
- TSHR 0
- TSPAN7 0
- TTC37 0
- TTR 0
- TUBA1A 0
- TUBA8 0
- TUBB2A 0
- TUBB2B 0
- TUBB3 0
- TUSC3 0
- TWIST1 0
- TXNL4A 0
- UBA5 0
- UBE2A 0
- UBE3A 0
- UBR4 0
- UBTF 0
- UNC13A 0
- UNC80 0
- UPB1 0
- UPF3B 0
- UROC1 0
- USP18 0
- USP7 0
- USP9X 0
- VLDLR 0
- VPS13B 0
- VPS53 0
- WAC 0
- WDFY3 0
- WDR26 0
- WDR45B 0
- WDR62 0
- WDR73 0
- WDR81 0
- WFS1 0
- WRN 0
- WWOX 0
- XIST 0
- XPNPEP3 0
- YAP1 0
- YY1 0
- ZBTB16 0
- ZBTB18 0
- ZBTB20 0
- ZBTB24 0
- ZDHHC9 0
- ZEB2 0
- ZFP57 0
- ZFYVE26 0
- ZIC2 0
- ZMYND11 0
- ZNF41 0
- ZNF674 0
- ZNF711 0
- ZNF81 0
STRs in panel
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This Panel is marked as Deleted
Intellectual disability Victorian Clinical Genetics Services
Gene: GNAS Green List (high evidence)
GNAS (GNAS complex locus)
EnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 19 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- None
- Panels with this gene
-
- VACTERL-like phenotypes
- Severe early-onset obesity
- DDG2P
- Cytopenias and congenital anaemias
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- Fetal anomalies
- Mosaic skin disorders - deep sequencing
- Renal tubulopathies
- Neurofibromatosis Type 1
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Cholestasis
- Limb disorders
- Intellectual disability
- Osteogenesis imperfecta
- Pigmentary skin disorders
- Congenital hypothyroidism
- Skeletal dysplasia
- Inherited non-medullary thyroid cancer
- Neonatal cholestasis
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)GNAS was added to Intellectual disability Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)GNAS was created by Sarah Leigh