Genomic imprinting
Gene: GNAS
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
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=gnasgnas. 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
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
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
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
This gene has been classified as Green List (High Evidence).
GNAS was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain
GNAS was created by ellenmcdonagh