| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v2.244 | NQO1 | Bryony Thompson Marked gene: NQO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.244 | NQO1 | Bryony Thompson Gene: nqo1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.244 | NQO1 |
Bryony Thompson gene: NQO1 was added gene: NQO1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NQO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NQO1 were set to 42267673 Phenotypes for gene: NQO1 were set to epithelial recurrent erosion dystrophy MONDO:0007381 Review for gene: NQO1 was set to RED Added comment: PMID 42267673 reports 30 individuals from 1 family with autosomal dominant missense variant p.Phe179Ile (c.535T>A) presenting with early‑onset corneal epithelial erosion dystrophy (Dystrophia Smolandiensis/ERED2). The variant co‑segregates across 49 informative meioses, is absent from gnomAD, and is hypothesised to act via toxic gain‑of‑function, although no variant‑specific functional assays were performed. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||