| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v0.76 | SRD5A3 | Nicola Ragge reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: ; Publications: PubMed: 20637498, 20700148, 26219881; Phenotypes: Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis), 612713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | SRD5A3 | Ivone Leong edited their review of gene: SRD5A3: Changed phenotypes: Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis), 612713 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | SRD5A3 | Ivone Leong reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20637498, 20700148, 26219881; Phenotypes: Corneal dystrophy, gelatinous drop-like, 204870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | SRD5A3 |
Ivone Leong gene: SRD5A3 was added gene: SRD5A3 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRD5A3 were set to 20637498; 20700148; 26219881 Phenotypes for gene: SRD5A3 were set to Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis), 612713 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||