| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Severe Paediatric Disorders v0.12 | TWNK | Louise Daugherty reviewed gene: TWNK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | TWNK | Louise Daugherty Publications for gene TWNK were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | TWNK | Louise Daugherty Added phenotypes Perrault syndrome 5, 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 for gene: TWNK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | TWNK | Louise Daugherty Added phenotypes Perrault syndrome 5, 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 for gene: TWNK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | TWNK | Louise Daugherty Added phenotypes Perrault syndrome 5, 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 for gene: TWNK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | TWNK | Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 for gene: TWNK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | TWNK |
Louise Daugherty Mode of inheritance for gene TWNK was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Perrault syndrome 5, 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 for gene: TWNK |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | TWNK | Louise Daugherty Source Next Generation Children Project was added to TWNK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | TWNK |
Louise Daugherty Source Expert Review Green was added to TWNK. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.4 | TWNK |
Louise Daugherty gene: TWNK was added gene: TWNK was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TWNK was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||