| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Brain Calcification v1.67 | GCM2 | Zornitza Stark Marked gene: GCM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.67 | GCM2 | Zornitza Stark Gene: gcm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.67 | GCM2 | Zornitza Stark Classified gene: GCM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.67 | GCM2 | Zornitza Stark Gene: gcm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.51 | GCM2 |
Yetong Chen 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 Added comment: 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 list |
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