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)
The mode of inheritance of this gene should ideally be set to both MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) AND MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) since the gene has both paternally and maternally imprinted transcripts. However, this is not currently possible in PanelApp.
With the current mode of inheritance of MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown variants in imprinted transcripts will only be tiered under the 'incomplete penetrance' mode.
We are currently looking at the best options for updating the mode of inheritance to cover the maternal and paternal imprinting seen in this gene.Created: 17 Apr 2026, 12:13 p.m. | Last Modified: 17 Apr 2026, 12:13 p.m.
Panel Version: 1.10
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
-
- Fetal anomalies
- VACTERL-like phenotypes
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- Renal tubulopathies
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- Mosaic skin disorders - deep sequencing
- Congenital hypothyroidism
- Neurofibromatosis Type 1
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- Severe early-onset obesity
- Osteogenesis imperfecta
- DDG2P
- Cholestasis
- Inherited non-medullary thyroid cancer
- Neonatal cholestasis
- Skeletal dysplasia
- Limb disorders
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