| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v0.7347 | GCGR | Zornitza Stark Marked gene: GCGR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7347 | GCGR | Zornitza Stark Gene: gcgr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7347 | GCGR | Zornitza Stark Classified gene: GCGR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7347 | GCGR | Zornitza Stark Gene: gcgr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7346 | GCGR |
Zornitza Stark gene: GCGR was added gene: GCGR was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: GCGR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCGR were set to 19657311; 25695890; 27933176; 30032256; 30294546 Phenotypes for gene: GCGR were set to Mahvash disease, MIM# 619290 Review for gene: GCGR was set to GREEN Added comment: Mahvash disease (MVAH) is caused by inactivating mutations in the glucagon receptor, leading to alpha-cell hyperplasia of the pancreas, hyperglucagonaemia without glucagonoma syndrome, and occasional hypoglycaemia. The disease may lead to glucagonomas and/or primitive neuroectodermal tumours. More than 5 unrelated families reported. Sources: Expert list |
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