Severe early-onset obesity
Gene: GNASEnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Imprinted gene, which causes several related disorders that have obesity as a feature.
Variants on both the maternal and the paternal alleles can cause obesity.Created: 1 Nov 2021, 3:41 a.m. | Last Modified: 1 Nov 2021, 3:41 a.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Pseudohypoparathyroidism Ia, MIM# 103580; Pseudohypoparathyroidism Ic, MIM# 612462; Pseudopseudohypoparathyroidism, MIM# 612463
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Pseudohypoparathyroidism Ia, MIM# 103580
- Pseudohypoparathyroidism Ic, MIM# 612462
- Pseudopseudohypoparathyroidism, MIM# 612463
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Calcium and Phosphate disorders
- Brain Calcification
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Imprinting disorders
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
- Hand and foot malformations
- Craniosynostosis
- Congenital hypothyroidism
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mosaic skin disorders
- Mendeliome
- Renal Tubulopathies and related disorders
- Severe early-onset obesity
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gnas has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GNAS were changed from Pseudohypoparathyroidism Ic, OMIM:612462; Pseudohypoparathyroidism Ia, OMIM:103580; Congenital Obesity; Pseudohypoparathyroidism Ib, OMIM:603233 to Pseudohypoparathyroidism Ia, MIM# 103580; Pseudohypoparathyroidism Ic, MIM# 612462; Pseudopseudohypoparathyroidism, MIM# 612463
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GNAS was added gene: GNAS was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: GNAS were set to 28663568; 28453643; 27991864 Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ic, OMIM:612462; Pseudohypoparathyroidism Ia, OMIM:103580; Congenital Obesity; Pseudohypoparathyroidism Ib, OMIM:603233