| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Monogenic Diabetes v0.30 | EIF2B1 | Zornitza Stark Marked gene: EIF2B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.30 | EIF2B1 | Zornitza Stark Gene: eif2b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.30 | EIF2B1 | Zornitza Stark Classified gene: EIF2B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.30 | EIF2B1 | Zornitza Stark Gene: eif2b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.29 | EIF2B1 |
Zornitza Stark gene: EIF2B1 was added gene: EIF2B1 was added to Monogenic Diabetes. Sources: Expert Review Mode of inheritance for gene: EIF2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF2B1 were set to 31882561 Phenotypes for gene: EIF2B1 were set to Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related Review for gene: EIF2B1 was set to GREEN Added comment: PMID: 31882561: heterozygous de novo variants in 5 patients with permanent neonatal/early onset diabetes and transient liver dysfunction (4 missense, 1 stop-loss). No functional studies performed, missense clustered within a small region (p.Leu34-Ser77). Sources: Expert Review |
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