Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
Gene: GNASEnsemblGeneIds (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: 1.13
Mode of inheritance
Unknown
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
- 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
-
- VACTERL-like phenotypes
- Limb disorders
- Congenital hypothyroidism
- Cytopenias and congenital anaemias
- Osteogenesis imperfecta
- Mosaic skin disorders - deep sequencing
- Cholestasis
- Neurofibromatosis Type 1
- Skeletal dysplasia
- Intellectual disability
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- DDG2P
- Severe early-onset obesity
- Pigmentary skin disorders
- Fetal anomalies
- Inherited non-medullary thyroid cancer
- Neonatal cholestasis
- Renal tubulopathies
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene GNAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
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