| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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 |
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| Cataract v0.445 | MAF | Zornitza Stark Marked gene: MAF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.445 | MAF | Zornitza Stark Gene: maf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.445 | MAF | Zornitza Stark Phenotypes for gene: MAF were changed from to Cataract 21, multiple types, MIM# 610202; Ayme-Gripp syndrome, MIM# 601088 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.444 | MAF | Zornitza Stark Publications for gene: MAF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.443 | MAF | Zornitza Stark Mode of inheritance for gene: MAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.442 | MAF | Zornitza Stark reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 38927621; Phenotypes: Cataract 21, multiple types, MIM# 610202, Ayme-Gripp syndrome, MIM# 601088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | MAF |
Zornitza Stark gene: MAF was added gene: MAF was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAF was set to Unknown |
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