| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cataract v0.616 | MAFA | Zornitza Stark Marked gene: MAFA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.616 | MAFA | Zornitza Stark Gene: mafa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.616 | MAFA | Zornitza Stark Classified gene: MAFA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.616 | MAFA | Zornitza Stark Gene: mafa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.615 | MAFA |
Zornitza Stark gene: MAFA was added gene: MAFA was added to Cataract. Sources: Literature Mode of inheritance for gene: MAFA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAFA were set to 29339498 Phenotypes for gene: MAFA were set to Insulinomatosis and diabetes mellitus, MIM# 147630 Review for gene: MAFA was set to AMBER Added comment: PMID 29339498 reports a heterozygous MAFA p.Ser64Phe gain‑of‑function missense variant in two unrelated families with autosomal dominant insulinomatosis/diabetes and in the index family four individuals with congenital cataract (±glaucoma). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||