Renal Tubulopathies and related disorders
Gene: GNA11
Hypo rather than hypercalciuria.Created: 27 Nov 2022, 9 p.m. | Last Modified: 27 Nov 2022, 9 p.m.
Panel Version: 0.30
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypocalciuric hypercalcaemia, type II, MIM# 145981
Not Bartter syndrome geneCreated: 24 Nov 2022, 5:41 a.m. | Last Modified: 24 Nov 2022, 5:41 a.m.
Panel Version: 0.29
At least 7 unrelated proband with hypocalcemia and missense variants
GoF is the disease of mechanism
Rare cause of FHHCreated: 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
gene: GNA11 was added gene: GNA11 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNA11 were set to 27334330; 23802536; 23802516; 26818911; 24823460 Phenotypes for gene: GNA11 were set to Hypocalciuric hypercalcemia, type II MIM#145981; Hypocalcemia, autosomal dominant 2 MIM#615361