Brain Calcification
Gene: GCM2EnsemblGeneIds (GRCh38): ENSG00000124827
EnsemblGeneIds (GRCh37): ENSG00000124827
OMIM: 603716, Gene2Phenotype
GCM2 is in 8 panels
1 review
Yetong Chen (University of Melbourne)
PMID 19940031 reports 11 patients with GCM2 variants who developed basal ganglia calcification. In the pedigrees of 5 families, some individuals with an R110W variant were affected while some with an R110W variant were nonaffected.
PMID 36405867 reports a patient with a GCM2 variant who developed bilateral basal ganglia calcification.
PMID 18583467 reports 2 patients from the same family who had the same GCM2 variant and developed basal ganglia calcification.
Sources: Expert listCreated: 11 Apr 2023, 12:15 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypoparathyroidism, familial isolated 2, MIM# 618883
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hypoparathyroidism, familial isolated 2, MIM# 618883
- OMIM
- 603716
- Clinvar variants
- Variants in GCM2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gcm2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gcm2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)gene: GCM2 was added gene: GCM2 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: GCM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GCM2 were set to 32642802; 19940031; 36405867; 18583467 Phenotypes for gene: GCM2 were set to Hypoparathyroidism, familial isolated 2, MIM# 618883 Review for gene: GCM2 was set to GREEN