Activity
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| Bilateral congenital or childhood onset cataracts v8.1 | PEX14 | Ida Ertmanska Tag watchlist_moi tag was added to gene: PEX14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v8.1 | PEX14 | Ida Ertmanska changed review comment from: Comment on mode of inheritance: There are 2 individuals reported with de novo heterozygous PEX14 variants and a mild peroxisome biogenesis disorder. The MOI should remain set to BIALLELIC, until more evidence emerges in support of dominant disease - added watchlist_moi tag.; to: Comment on mode of inheritance: There are 2 individuals reported with de novo heterozygous PEX14 variants and a mild peroxisome biogenesis disorder with bilateral cataracts. The MOI should remain set to BIALLELIC, until more evidence emerges in support of dominant disease - added watchlist_moi tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v8.1 | PEX14 | Ida Ertmanska commented on gene: PEX14: Comment on mode of inheritance: There are 2 individuals reported with de novo heterozygous PEX14 variants and a mild peroxisome biogenesis disorder. The MOI should remain set to BIALLELIC, until more evidence emerges in support of dominant disease - added watchlist_moi tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v8.1 | PEX14 | Ida Ertmanska reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 37493040; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), OMIM:614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||