Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Structural eye disease v0.76 | ALDH1A3 | Nicola Ragge reviewed gene: ALDH1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24859610, 23591992; Phenotypes: Microphthalmia, isolated 8 615113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | ALDH1A3 | Ivone Leong reviewed gene: ALDH1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24859610, 23591992; Phenotypes: Microphthalmia, isolated 8 615113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | ALDH1A3 |
Ivone Leong Source NHS GMS was added to ALDH1A3. Added phenotypes Microphthalmia, isolated 8 615113 for gene: ALDH1A3 Publications for gene ALDH1A3 were changed from 24859610; 23591992 to 23591992; 24859610 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.2 | ALDH1A3 |
Ellen McDonagh gene: ALDH1A3 was added gene: ALDH1A3 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH1A3 were set to 24859610; 23591992 Phenotypes for gene: ALDH1A3 were set to Microphthalmia, isolated 8 615113 |