Severe early-onset obesity
Gene: GNASEnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 19 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.Created: 4 Dec 2024, 9:27 p.m. | Last Modified: 4 Dec 2024, 9:27 p.m.
Panel Version: 4.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarah Leigh (Genomics England Curator)
Obesity 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
Ivone Leong (Genomics England Curator)
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
Ismaa Farooqi (University of Cambridge)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert list
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Pseudohypoparathyroidism Ia, OMIM:103580
- pseudohypoparathyroidism type 1A, MONDO:0007078
- Pseudohypoparathyroidism Ic, OMIM:612462
- pseudohypoparathyroidism type 1C, MONDO:0012911
- Pseudopseudohypoparathyroidism, OMIM:612463
- pseudopseudohypoparathyroidism, MONDO:0012912
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- VACTERL-like phenotypes
- Cholestasis
- Cytopenias and congenital anaemias
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- Limb disorders
- DDG2P
- Renal tubulopathies
- Intellectual disability
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Neurofibromatosis Type 1
- Severe early-onset obesity
- Mosaic skin disorders - deep sequencing
- Inherited non-medullary thyroid cancer
- Neonatal cholestasis
- Fetal anomalies
- Congenital hypothyroidism
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_22_MOI was removed from gene: GNAS.
Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to GNAS. Mode of inheritance for gene GNAS was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q4_22_MOI tag was added to gene: GNAS.
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Added New Source, Added New Source, Set mode of inheritance, Set publications, Status Update
Ivone Leong (Genomics England Curator)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)
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudopseudohypoparathyroidism, 612463 to Congenital Obesity; Pseudohypoparathyroidism Ib, 603233; Pseudohypoparathyroidism Ic, 612462
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudohypoparathyroidism, 612463 to Congenital Obesity; Pseudopseudohypoparathyroidism, 612463
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudopseudohypoparathyroidism, 612463 to Congenital Obesity; Pseudohypoparathyroidism, 612463
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: GNAS were changed from Congenital Obesity to Congenital Obesity; Pseudopseudohypoparathyroidism, 612463
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
Added New Source
Eik Haraldsdottir (Genomics England)GNAS was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory