| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.572 | MVK | Zornitza Stark Marked gene: MVK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.572 | MVK | Zornitza Stark Gene: mvk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.572 | MVK | Zornitza Stark Classified gene: MVK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.572 | MVK | Zornitza Stark Gene: mvk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.571 | MVK |
Zornitza Stark gene: MVK was added gene: MVK was added to Cataract. Sources: Literature Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 33917151 Phenotypes for gene: MVK were set to Mevalonic aciduria, MIM# 610377 Review for gene: MVK was set to GREEN Added comment: PMID 33917151 reports on a large cohort of individuals with MVK-related disease in an attempt to establish genotype-phenotype correlations. This includes 15 individuals with homozygous missense MVK variants (p.Leu264Phe, p.Ala334Thr) presenting with cataract. All seven patients homozygous for p.Leu264Phe had cataract and 13 of 15 cataract patients carried either p.Leu264Phe or p.Ala334Thr. Sources: Literature |
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