Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
Gene: GNASEnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 19 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #103580, #603233, #612462 & #612463). These OMIM records were last accessed on 17 December 2025.Created: 17 Dec 2025, 9:06 p.m. | Last Modified: 17 Dec 2025, 9:06 p.m.
Panel Version: 1.7
Eleanor Williams (Genomics England Curator)
GNAS has been added to the panel for the clinical indication 'R293 Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 14 Jan 2023, 6:42 p.m. | Last Modified: 14 Jan 2023, 9:28 p.m.
Panel Version: 0.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Pseudohypoparathyroidism Ia, OMIM:103580
- Pseudohypoparathyroidism Ib, OMIM:603233
- Pseudohypoparathyroidism Ic, OMIM:612462
- Pseudopseudohypoparathyroidism, OMIM:612463
- pseudohypoparathyroidism type 1A, MONDO:0007078
- pseudohypoparathyroidism type 1B, MONDO:0011301
- pseudohypoparathyroidism type 1C, MONDO:0012911
- pseudopseudohypoparathyroidism, MONDO:0012912
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- None
- 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
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: GNAS were changed from to Pseudohypoparathyroidism Ia, OMIM:103580; Pseudohypoparathyroidism Ib, OMIM:603233; Pseudohypoparathyroidism Ic, OMIM:612462; Pseudopseudohypoparathyroidism, OMIM:612463; pseudohypoparathyroidism type 1A, MONDO:0007078; pseudohypoparathyroidism type 1B, MONDO:0011301; pseudohypoparathyroidism type 1C, MONDO:0012911; pseudopseudohypoparathyroidism, MONDO:0012912
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: GNAS was added gene: GNAS was added to Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown