Genomic imprinting
Gene: GNASEnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 19 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on mode of inheritance: Differential expression of the different GNAS transcripts:
• Gs-alpha transcript (α-subunit of G protein)
o Not imprinted (non-methylated) - biallelic expression, except:
renal proximal tubules, thyroid, gonads, pituitary – maternally expressed
o Nearly all tissues - ubiquitously expressed
• XLAS
o paternally expressed
o promoter in DMRs
o neuroendocrine tissues and the nervous system
o promoter in DMRs
• NESP55
o maternally expressed
o promoter in DMRs
• A/B transcript
o paternally expressed
o ubiquitously expressed
o noncoding transcript
o promoter in DMRs
• antisense GNAS transcript (GNASAS)
o paternally expressed
o ubiquitously expressed
o noncoding transcript
o promoter in DMRsCreated: 11 Oct 2022, 3:11 p.m. | Last Modified: 11 Oct 2022, 3:11 p.m.
Panel Version: 0.146
Comment on phenotypes: Pseudohypoparathyroidism Ia, OMIM:103580, Pseudohypoparathyroidism Ib, OMIM:603233 & Pseudohypoparathyroidism Ic, OMIM:612462 are all caused by maternally-inherited GNAS1 variants. Osseous heteroplasia, progressive, OMIM:166350 & Pseudopseudohypoparathyroidism, OMIM:612463 are caused by paternally-inherited GNAS1 variantsCreated: 18 Jan 2022, 12:22 p.m. | Last Modified: 18 Jan 2022, 12:22 p.m.
Panel Version: 0.105
GNAS complex locus includes: NESP55, GNASXL, Exon-1A (STX16), GS-alpha listed in supplimentary table (PMID 30794780)HGNC::4392)Created: 22 Dec 2020, 6:10 p.m. | Last Modified: 4 Jan 2021, 3:15 p.m.
Panel Version: 0.26
Ellen McDonagh (Genomics England Curator)
the regulatory region of GNAS is >100kb and includes elements subject to parent-of-origin specific regulation. Indels and rearrangements of the region are well-established causes of disease, associated in some but not all cases with alterations of DNA methylation marks.http://omim.org/entry/139320?search=gnas&highlight=gnas. This is (a) gene in imprinted regions, in which point mutations / indels are associated with disease (e.g. CDKN1C); (b) gene for which alteration of effective copy number is associated with disease (though mutations in the transcript are currently not identified).Created: 4 May 2017, 2:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
From the Craniosynostosis syndromes phenotypes gene panel
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Literature
- Expert Review Green
- Imprinting GeCIP Subdomain
- Phenotypes
-
- Pseudohypoparathyroidism Ia, OMIM:103580
- Pseudohypoparathyroidism Ib, OMIM:603233
- Pseudohypoparathyroidism Ic, OMIM:612462
- 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
Set mode of inheritance
Sarah Leigh (Genomics England Curator)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 Phenotype resulting from under expression: Pseudohypoparathyroidism Type 1a; pseudopseudohypoparathyroidism; Affected tissue: kidney, bone, brain to Pseudohypoparathyroidism Ia, OMIM:103580; Pseudohypoparathyroidism Ib, OMIM:603233; Pseudohypoparathyroidism Ic, OMIM:612462
Added New Source, Set publications
Sarah Leigh (Genomics England Curator)Source Literature was added to GNAS. Publications for gene GNAS were updated from PMID: 2109828; 1944469; 9506752; 12024005; 12024004; 10980525; 11788646; 15181091; [11406605; 15592469; [15592469; 15800843] to [11406605; 15592469; 12024004; 15800843]; 11788646; 9506752; 30794780; [15592469; 15181091; 1944469; http://igc.otago.ac.nz/home.html; PMID: 2109828; 12024005; 10980525
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)GNAS was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain
Created
Ellen McDonagh (Genomics England Curator)GNAS was created by ellenmcdonagh