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  3. GNA11
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Renal Tubulopathies and related disorders

Gene: GNA11

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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

Created: 27 Nov 2022, 9 p.m.
Last Modified: 27 Nov 2022, 9 p.m.
Panel version: Imported from Bartter Syndrome panel version 0.30

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Not Bartter syndrome gene
Created: 24 Nov 2022, 5:41 a.m. | Last Modified: 24 Nov 2022, 5:41 a.m.
Panel Version: 0.29
Created: 24 Nov 2022, 5:41 a.m.
Last Modified: 24 Nov 2022, 5:41 a.m.
Panel version: Imported from Bartter Syndrome panel version 0.29

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 Calcium and Phosphate disorders panel version Imported from Mendeliome panel version 0.10448

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypocalciuric hypercalcemia, type II MIM#145981
  • Hypocalcemia, autosomal dominant 2 MIM#615361
OMIM
139313
Clinvar variants
Variants in GNA11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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