Severe early-onset obesity

Gene: GNAS

Green List (high evidence)

GNAS (GNAS complex locus)
EnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

History Filter Activity

1 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnas has been classified as Green List (High Evidence).

1 Nov 2021, Gel status: 3

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

31 Oct 2021, Gel status: 3

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