Calcium and Phosphate disorders
Gene: GNA11

GNA11 (G protein subunit alpha 11)
EnsemblGeneIds (GRCh38): ENSG00000088256
EnsemblGeneIds (GRCh37): ENSG00000088256
OMIM: 139313, Gene2Phenotype
GNA11 is in 10 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 7 unrelated proband with hypocalcemia and missense variants

GoF is the disease of mechanism

Rare cause of FHH
Created: 3 Jan 2022, 10:06 p.m. | Last Modified: 3 Jan 2022, 10:06 p.m.

Panel Version: 0.10448

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypocalcemia, autosomal dominant 2 MIM#615361; Hypocalciuric hypercalcemia, type II MIM#145981

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 Jan 2022, 10:06 p.m.
Last Modified: 3 Jan 2022, 10:06 p.m.
Panel version: Imported from Mendeliome panel version 0.10448

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Rare cause of FHH. Note variants in this gene can also cause hypocalcaemia.
Created: 6 Apr 2021, 2:13 a.m. | Last Modified: 6 Apr 2021, 2:13 a.m.

Panel Version: 0.29

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypocalciuric hypercalcaemia, type II, MIM# 145981; MONDO:0007792

Publications

Created: 6 Apr 2021, 2:13 a.m.
Last Modified: 6 Apr 2021, 2:13 a.m.
Panel version: Imported from Hypercalcaemia panel version 0.29

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
KidGen_CalcPhos v38.1.0
Victorian Clinical Genetics Services

Phenotypes

Hypocalcemia, autosomal dominant 2 MIM#615361
Hypocalciuric hypercalcemia, type II MIM#145981

OMIM

139313

Clinvar variants

Variants in GNA11

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene