Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Mitochondrial disease v0.479 IDH3A Zornitza Stark Phenotypes for gene: IDH3A were changed from Retinitis pigmentosa to Retinitis pigmentosa 90, MIM#619007
Mitochondrial disease v0.478 IDH3A Zornitza Stark edited their review of gene: IDH3A: Changed phenotypes: Retinitis pigmentosa 90, MIM#619007
Mitochondrial disease v0.434 IDH3A Zornitza Stark Marked gene: IDH3A as ready
Mitochondrial disease v0.434 IDH3A Zornitza Stark Gene: idh3a has been classified as Green List (High Evidence).
Mitochondrial disease v0.239 IDH3A Zornitza Stark Classified gene: IDH3A as Green List (high evidence)
Mitochondrial disease v0.239 IDH3A Zornitza Stark Gene: idh3a has been classified as Green List (High Evidence).
Mitochondrial disease v0.238 IDH3A Zornitza Stark gene: IDH3A was added
gene: IDH3A was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDH3A were set to 31012789; 30478029; 30058936; 28412069
Phenotypes for gene: IDH3A were set to Retinitis pigmentosa
Review for gene: IDH3A was set to GREEN
Added comment: Six unrelated families reported with retinitis pigmentosa. Mouse model.
Sources: NHS GMS