Hypercalcaemia
Gene: GCM2EnsemblGeneIds (GRCh38): ENSG00000124827
EnsemblGeneIds (GRCh37): ENSG00000124827
OMIM: 603716, Gene2Phenotype
GCM2 is in 8 panels
1 review
Alison Yeung (Victorian Clinical Genetics Services)
7 unrelated kindreds with causative variants identified. Functional studies demonstrated gain-of-function/activating mutations
Sources: LiteratureCreated: 28 Sep 2020, 6:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hyperparathyroidism 4, OMIM #617343
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Hyperparathyroidism 4, OMIM #617343
- OMIM
- 603716
- Clinvar variants
- Variants in GCM2
- Penetrance
- unknown
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: GCM2 was changed from None to Other
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: gcm2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: gcm2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alison Yeung (Victorian Clinical Genetics Services)gene: GCM2 was added gene: GCM2 was added to Hypercalcaemia. Sources: Literature Mode of inheritance for gene: GCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GCM2 were set to 27745835 Phenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343 Penetrance for gene: GCM2 were set to unknown Review for gene: GCM2 was set to GREEN