GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: GNASEnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 19 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Acromelic dysplasias gp of SD, disorganized development of skeletal components gp of SD. Several cases. Also mutated in ACTH-independent macronodular adrenal hyperplasia 219080 IC;Pseudohypoparathyroidism Ic 612462;Pseudopseudohypoparathyroidism 612463; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
McCune-Albright syndrome, somatic, mosaic 174800; Osseous heteroplasia, progressive 166350; Pseudohypoparathyroidism Ia 103580; Pseudohypoparathyroidism Ib 603233
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Pseudohypoparathyroidism Ia 103580
- Pseudohypoparathyroidism Ib 603233
- Osseous heteroplasia, progressive 166350
- McCune-Albright syndrome, somatic, mosaic 174800
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- None
- Panels with this gene
-
- VACTERL-like phenotypes
- Cholestasis
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Cytopenias and congenital anaemias
- Renal tubulopathies
- Limb disorders
- Skeletal dysplasia
- Neurofibromatosis Type 1
- Severe early-onset obesity
- Osteogenesis imperfecta
- Intellectual disability
- Pigmentary skin disorders
- Mosaic skin disorders - deep sequencing
- Inherited non-medullary thyroid cancer
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- Congenital hypothyroidism
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: GNAS was added gene: GNAS was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ia 103580; Pseudohypoparathyroidism Ib 603233; Osseous heteroplasia, progressive 166350; McCune-Albright syndrome, somatic, mosaic 174800