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  2. Familial hypoparathyroidism
  3. GCM2
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Familial hypoparathyroidism

Gene: GCM2

Green List (high evidence)
GCM2 (glial cells missing homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000124827
EnsemblGeneIds (GRCh37): ENSG00000124827
OMIM: 603716, Gene2Phenotype
GCM2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

7 unrelated kindreds with causative variants identified. Functional studies demonstrated gain-of-function/activating mutations
Created: 28 Sep 2020, 6:40 a.m. | Last Modified: 28 Sep 2020, 6:40 a.m.
Panel Version: 0.4602

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperparathyroidism 4, OMIM #617343

Publications

Mode of pathogenicity
Other

Created: 28 Sep 2020, 6:40 a.m.
Last Modified: 28 Sep 2020, 6:40 a.m.
Panel version: Imported from Mendeliome panel version 0.4602

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Familial isolated hyperparathyroidism MONDO:0015027
OMIM
603716
Clinvar variants
Variants in GCM2
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: gcm2 has been classified as Green List (High Evidence).

19 Jul 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: GCM2 were set to

19 Jul 2022, Gel status: 3

Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

Mode of pathogenicity for gene: GCM2 was changed from None to Other

19 Jul 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: GCM2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gcm2 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: GCM2 was added gene: GCM2 was added to Familial hypoparathyroidism. Sources: NHS GMS Mode of inheritance for gene: GCM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GCM2 were set to Familial isolated hyperparathyroidism MONDO:0015027 Review for gene: GCM2 was set to GREEN