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
3 reviews
Arina Puzriakova (Genomics England Curator)
The mode of inheritance of this gene has been updated to Unknown following NHS Genomic Medicine Service approval. This mode of inheritance enables inclusive tiering across all segregation patterns for this gene.Created: 24 Jun 2026, 3:25 p.m. | Last Modified: 24 Jun 2026, 3:25 p.m.
Panel Version: 6.4
Mode of inheritance
Unknown
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Details
- Mode of Inheritance
- Unknown
- 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
- Limb disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Congenital hypothyroidism
- Cytopenias and congenital anaemias
- Osteogenesis imperfecta
- Mosaic skin disorders - deep sequencing
- DDG2P
- Cholestasis
- Neurofibromatosis Type 1
- Skeletal dysplasia
- Fetal anomalies
- Severe early-onset obesity
- Intellectual disability
- Pigmentary skin disorders
- Inherited non-medullary thyroid cancer
- Neonatal cholestasis
- Renal tubulopathies
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
History Filter Activity
24 Jun 2026, Gel status: 1
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene GNAS was changed from to Unknown
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