Brain Calcification
Gene: GNA11EnsemblGeneIds (GRCh38): ENSG00000088256
EnsemblGeneIds (GRCh37): ENSG00000088256
OMIM: 139313, Gene2Phenotype
GNA11 is in 10 panels
1 review
Yetong Chen (University of Melbourne)
PMID 27334330 reports 4 patients with the same GNA11 variant (c.1018G>A), who are from the same family, developed intracranial calcifications.
Sources: Expert listCreated: 17 Apr 2023, 4:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypocalcemia, autosomal dominant 2, MIM# 615361
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Hypocalcemia, autosomal dominant 2, MIM# 615361
- OMIM
- 139313
- Clinvar variants
- Variants in GNA11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gna11 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gna11 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)gene: GNA11 was added gene: GNA11 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNA11 were set to 27334330 Phenotypes for gene: GNA11 were set to Hypocalcemia, autosomal dominant 2, MIM# 615361 Review for gene: GNA11 was set to RED