Familial hyperparathyroidism or hypocalciuric hypercalcaemia
Gene: GNA11EnsemblGeneIds (GRCh38): ENSG00000088256
EnsemblGeneIds (GRCh37): ENSG00000088256
OMIM: 139313, Gene2Phenotype
GNA11 is in 9 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green. GNA11 pathogenic variants are causative of FHH type 2 (much rarer than FHH1 and FHH3)
Sources: NHS GMSCreated: 8 Mar 2022, 3:45 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypocalcemia, autosomal dominant 2, OMIM:615361; Hypocalciuric hypercalcemia, type II, OMIM:145981
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Hypocalcemia, autosomal dominant 2, OMIM:615361
- Hypocalciuric hypercalcemia, type II, OMIM:145981
- OMIM
- 139313
- Clinvar variants
- Variants in GNA11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: gna11 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: GNA11 was added gene: GNA11 was added to Familial hyperparathyroidism. Sources: NHS GMS Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNA11 were set to 23222959; 26729423 Phenotypes for gene: GNA11 were set to Hypocalcemia, autosomal dominant 2, OMIM:615361; Hypocalciuric hypercalcemia, type II, OMIM:145981 Review for gene: GNA11 was set to GREEN