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  2. Calcium and Phosphate disorders
  3. GCM2
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Calcium and Phosphate disorders

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

3 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Well established association. GoF for AD hyperparathyroidism, and LoF for AR hypoparathyroidism
Sources: Expert list
Created: 28 Nov 2022, 5:54 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Hyperparathyroidism 4, OMIM #617343; Hypoparathyroidism, familial isolated 2, OMIM #618883

Publications

Created: 28 Nov 2022, 5:54 a.m.

Panel version: 0.42

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

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

7 unrelated kindreds with causative variants identified. Functional studies demonstrated gain-of-function/activating mutations
Sources: Literature
Created: 28 Sep 2020, 6:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hyperparathyroidism 4, OMIM #617343

Publications

Created: 28 Sep 2020, 6:35 a.m.

Panel version: Imported from Hypercalcaemia panel version 0.9

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperparathyroidism 4, OMIM #617343
  • Hypoparathyroidism, familial isolated 2, OMIM #618883
OMIM
603716
Clinvar variants
Variants in GCM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gcm2 has been classified as Green List (High Evidence).

28 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: gcm2 has been classified as Green List (High Evidence).

28 Nov 2022, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: GCM2 was added gene: GCM2 was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list Mode of inheritance for gene: GCM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: GCM2 were set to PMID: 27745835, 20190276, 34967908, 35038313 Phenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343; Hypoparathyroidism, familial isolated 2, OMIM #618883 Review for gene: GCM2 was set to GREEN