| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ataxia v2.187 | PNPLA8 | Bryony Thompson Marked gene: PNPLA8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.187 | PNPLA8 | Bryony Thompson Gene: pnpla8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.187 | PNPLA8 | Bryony Thompson Classified gene: PNPLA8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.187 | PNPLA8 | Bryony Thompson Gene: pnpla8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.186 | PNPLA8 |
Bryony Thompson gene: PNPLA8 was added gene: PNPLA8 was added to Ataxia. Sources: Literature Mode of inheritance for gene: PNPLA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA8 were set to 40580440; 39680195; 37057294 Phenotypes for gene: PNPLA8 were set to Mitochondrial disease, MONDO:0044970 Review for gene: PNPLA8 was set to GREEN Added comment: Biallelic loss-of-function PNPLA8 variants cause a mitochondrial disease characterised by cerebellar ataxia, peripheral neuropathy, tremor, limb weakness and gonadal dysfunction (primary ovarian insufficiency or gonadal dysgenesis). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||