| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypercalcaemia v0.13 | GCM2 | Zornitza Stark Mode of pathogenicity for gene: GCM2 was changed from None to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypercalcaemia v0.10 | GCM2 | Alison Yeung Marked gene: GCM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypercalcaemia v0.10 | GCM2 | Alison Yeung Gene: gcm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypercalcaemia v0.10 | GCM2 | Alison Yeung Classified gene: GCM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypercalcaemia v0.10 | GCM2 | Alison Yeung Gene: gcm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypercalcaemia v0.9 | GCM2 |
Alison Yeung 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 Added comment: 7 unrelated kindreds with causative variants identified. Functional studies demonstrated gain-of-function/activating mutations Sources: Literature |
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