Brain Calcification
Gene: GNASEnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 17 panels
1 review
Yetong Chen (University of Melbourne)
The imprinting of GNAS is complex. While GNAS is primarily expressed from the maternal allele, only the paternal allele is expressed in some tissues.
Although the number of cases is limited, patients are reported by different authors across the years.
PMID 28296742 reports 2 patients from the same family, who had the same GNAS variant (p.P115S, p.V340M), and developed brain calcification.
PMID 35600030 reports a patient with a rare GNAS variant who developed bilateral basal ganglia calcification.
PMID 20444925 reports 2 patients from the same family who developed brain calcification. The patients had broad epigenetic defects at the GNAS gene and a deletion that exclusively affects exons encoding the antisense transcript (delAS3-4). The deletion is suspected to partially influence the imprinting of some GNAS loci.
Sources: Expert listCreated: 17 Apr 2023, 9:54 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Pseudohypoparathyroidism Ib, MIM# 603233
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pseudohypoparathyroidism Ib, MIM# 603233
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Calcium and Phosphate disorders
- Brain Calcification
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Imprinting disorders
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
- Hand and foot malformations
- Craniosynostosis
- Congenital hypothyroidism
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mosaic skin disorders
- Mendeliome
- Renal Tubulopathies and related disorders
- Severe early-onset obesity
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gnas has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gnas has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)gene: GNAS was added gene: GNAS was added to Brain Calcification. Sources: Expert list 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 28296742; 35600030; 20444925 Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ib, MIM# 603233 Review for gene: GNAS was set to GREEN