Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Structural eye disease v0.76 | VSX2 | Nicola Ragge reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10932181, 20414678 ; Phenotypes: Microphthalmia with coloboma 3, 610092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | VSX2 | Ivone Leong reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10932181, 20414678 ; Phenotypes: Microphthalmia with coloboma 3, 610092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | VSX2 |
Ivone Leong Source NHS GMS was added to VSX2. Added phenotypes Microphthalmia with coloboma 3, 610092 for gene: VSX2 Publications for gene VSX2 were changed from 10932181, 24859618 to 20414678; 10932181 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.2 | VSX2 |
Ellen McDonagh gene: VSX2 was added gene: VSX2 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VSX2 were set to 10932181, 24859618 Phenotypes for gene: VSX2 were set to Microphthalmia with coloboma 3, 610092 |