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| Leukodystrophy - adult onset v0.37 | TWNK | Zornitza Stark Marked gene: TWNK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.37 | TWNK | Zornitza Stark Gene: twnk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.18 | TWNK | Bryony Thompson Classified gene: TWNK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.18 | TWNK | Bryony Thompson Gene: twnk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.17 | TWNK |
Bryony Thompson gene: TWNK was added gene: TWNK was added to Leukodystrophy - adult onset. Sources: Expert list Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TWNK were set to 31455269; 19353676 Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 609286 Review for gene: TWNK was set to AMBER Added comment: Two reports of white matter changes one in a woman diagnosed with PEO and an infant diagnosed with mitochondrial depletion syndrome. Sources: Expert list |
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