| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v0.76 | VAX1 | Nicola Ragge reviewed gene: VAX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 10601035, 22095910; Phenotypes: Microphthalmia, syndromic 11, 614402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.75 | VAX1 | Ivone Leong commented on gene: VAX1: Promoted from red to amber based on the expert review provided. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.74 | VAX1 |
Ivone Leong Source Expert Review Amber was added to VAX1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | VAX1 | Ivone Leong edited their review of gene: VAX1: Changed phenotypes: Microphthalmia, syndromic 11, 614402 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | VAX1 | Ivone Leong reviewed gene: VAX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 10601035, 22095910; Phenotypes: Wagner syndrome 1, 143200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | VAX1 |
Ivone Leong Source NHS GMS was added to VAX1. Mode of inheritance for gene VAX1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Microphthalmia, syndromic 11, 614402 for gene: VAX1 Publications for gene VAX1 were changed from to 10601035; 22095910 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | VAX1 |
Ellen McDonagh gene: VAX1 was added gene: VAX1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: VAX1 was set to Phenotypes for gene: VAX1 were set to Microphthalmia, syndromic 11, 614402 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||