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  2. Familial hypoparathyroidism
  3. GNA11
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Familial hypoparathyroidism

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

1 review

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • autosomal dominant hypocalcemia MONDO:0018543
OMIM
139313
Clinvar variants
Variants in GNA11
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

19 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gna11 has been classified as Green List (High Evidence).

19 Jul 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: GNA11 were set to

19 Jul 2022, Gel status: 3

Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

Mode of pathogenicity for gene: GNA11 was changed from None to Other

19 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gna11 has been classified as Green List (High Evidence).

19 Jul 2022, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GNA11 was added gene: GNA11 was added to Familial hypoparathyroidism. Sources: NHS GMS Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GNA11 were set to autosomal dominant hypocalcemia MONDO:0018543 Review for gene: GNA11 was set to GREEN