Severe early-onset obesity
Gene: GNASObesity is reported in Pseudohypoparathyroidism Ia, OMIM:103580; pseudohypoparathyroidism type 1A, MONDO:0007078; Pseudohypoparathyroidism Ic, OMIM:612462; pseudohypoparathyroidism type 1C, MONDO:0012911;Pseudopseudohypoparathyroidism, OMIM:612463; pseudopseudohypoparathyroidism, MONDO:0012912. The maternal allele is affected in Pseudohypoparathyroidism Ia & Ic, while the paternal allele is affected in Pseudopseudohypoparathyroidism, to reflect this, the mode of inheritance for GNAS on the Severe early-onset obesity should be set to monoallelic, imptinted status unknown.Created: 13 Oct 2022, 4:08 p.m. | Last Modified: 13 Oct 2022, 4:08 p.m.
Panel Version: 2.52
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GNAS is associated with Pseudohypoparathyroidism on OMIM and Gene2Phenotype. There are >3 unrelated cases of patients with Pseudohypoparathyroidism who have variants in GNAS. Variants that affect the expression of the maternal copy of the transcript is associated with obesity (PMID: 27991864; 28663568). Obesity is also phenotype of pseudohypoparathyroidism (PMID: 28468643). There is enough evidence for this gene to be green.Created: 15 Aug 2019, 2:02 p.m. | Last Modified: 15 Aug 2019, 2:02 p.m.
Panel Version: 1.22
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudohypoparathyroidism Ia, OMIM:103580; Pseudohypoparathyroidism Ib, OMIM:603233; Pseudohypoparathyroidism Ic, OMIM:612462 to Pseudohypoparathyroidism Ia, OMIM:103580; pseudohypoparathyroidism type 1A, MONDO:0007078; Pseudohypoparathyroidism Ic, OMIM:612462; pseudohypoparathyroidism type 1C, MONDO:0012911; Pseudopseudohypoparathyroidism, OMIM:612463; pseudopseudohypoparathyroidism, MONDO:0012912
Tag Q4_22_MOI tag was added to gene: GNAS.
Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudohypoparathyroidism Ia, 103580; Pseudohypoparathyroidism Ib, 603233; Pseudohypoparathyroidism Ic, 612462 to Congenital Obesity; Pseudohypoparathyroidism Ia, OMIM:103580; Pseudohypoparathyroidism Ib, OMIM:603233; Pseudohypoparathyroidism Ic, OMIM:612462
Source Expert Review Green was added to GNAS. Source Expert list was added to GNAS. Mode of inheritance for gene GNAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene GNAS were changed from to 27991864; 28663568; 28453643 Rating Changed from Red List (low evidence) to Green List (high evidence)
Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudohypoparathyroidism Ib, 603233; Pseudohypoparathyroidism Ic, 612462 to Congenital Obesity; Pseudohypoparathyroidism Ia, 103580; Pseudohypoparathyroidism Ib, 603233; Pseudohypoparathyroidism Ic, 612462
Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudopseudohypoparathyroidism, 612463 to Congenital Obesity; Pseudohypoparathyroidism Ib, 603233; Pseudohypoparathyroidism Ic, 612462
Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudohypoparathyroidism, 612463 to Congenital Obesity; Pseudopseudohypoparathyroidism, 612463
Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudopseudohypoparathyroidism, 612463 to Congenital Obesity; Pseudohypoparathyroidism, 612463
Phenotypes for gene: GNAS were changed from Congenital Obesity to Congenital Obesity; Pseudopseudohypoparathyroidism, 612463
25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
GNAS was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory