Osteogenesis imperfecta
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
2 reviews
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- Complete
- 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
- Osteogenesis imperfecta
- Pigmentary skin disorders
- Congenital hypothyroidism
- Skeletal dysplasia
- Intellectual disability
- Inherited non-medullary thyroid cancer
- Neonatal cholestasis
History Filter Activity
12 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
23 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GNAS was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory