| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Corneal Dystrophy v1.13 | MIR184 | Zornitza Stark Marked gene: MIR184 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal Dystrophy v1.13 | MIR184 | Zornitza Stark Gene: mir184 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal Dystrophy v1.13 | MIR184 | Zornitza Stark Classified gene: MIR184 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal Dystrophy v1.13 | MIR184 | Zornitza Stark Gene: mir184 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal Dystrophy v1.12 | MIR184 |
Rylee Peters gene: MIR184 was added gene: MIR184 was added to Corneal Dystrophy. Sources: Literature Mode of inheritance for gene: MIR184 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MIR184 were set to 40852795; 21996275; 22131394; 25373792; 24138095 Phenotypes for gene: MIR184 were set to EDICT syndrome (MIM#614303) Review for gene: MIR184 was set to GREEN Added comment: PMID: 40852795: Four individuals with Fuchs Endothelial Corneal Dystrophy (FECD) – three harboured n.58G>A and one with n.73G>T. No segregation testing was performed in this cohort. At least 5 other families reported for EDICT syndrome (autosomal dominant syndromal anterior segment dysgenesis characterised by endothelial dystrophy, iris hypoplasia, congenital cataract, and thinning of the corneal stroma). Three had the same variant, (+57C>T). However, it has been suggested that his arose independently rather than being a founder variant (PMIDs: 21996275, 22131394, 25373792, 24138095). Sources: Literature |
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