| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Eye Anterior Segment Abnormalities v0.49 | CRYAA | Zornitza Stark Marked gene: CRYAA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.49 | CRYAA | Zornitza Stark Gene: cryaa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.49 | CRYAA | Zornitza Stark Classified gene: CRYAA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.49 | CRYAA | Zornitza Stark Gene: cryaa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.48 | CRYAA |
Zornitza Stark gene: CRYAA was added gene: CRYAA was added to Eye Anterior Segment Abnormalities. Sources: Expert Review Mode of inheritance for gene: CRYAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYAA were set to 32791987 Phenotypes for gene: CRYAA were set to Anterior segment dysgenesis Mode of pathogenicity for gene: CRYAA was set to Other Review for gene: CRYAA was set to AMBER Added comment: Variants in this gene are associated with cataract. Two unrelated individuals reported with elongation variants and a more complex eye phenotype, including bilateral microphthalmia and severe anterior segment dysgenesis, primarily characterized by congenital aphakia, microcornea, and iris hypoplasia/aniridia. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||