VACTERL-like phenotypes
Gene: GNAS
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
1 review
Muriel Holder (Clinical Genetics, Guy's Hospital)
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- Complete
- Panels with this gene
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- VACTERL-like phenotypes
- Cholestasis
- Cytopenias and congenital anaemias
- Limb disorders
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- DDG2P
- Renal tubulopathies
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Neurofibromatosis Type 1
- Severe early-onset obesity
- Mosaic skin disorders - deep sequencing
- Inherited non-medullary thyroid cancer
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Congenital hypothyroidism
History Filter Activity
28 Apr 2015, Gel status: 1
Added New Source
GEL ()GNAS was added to VACTERL-like phenotypepanel. Sources: Emory Genetics Laboratory