Leukodystrophy - adult onset
Gene: TWNK
Two reports of white matter changes one in a woman diagnosed with PEO and an infant diagnosed with mitochondrial depletion syndrome.
Sources: Expert listCreated: 19 Jan 2020, 10:30 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 609286
Publications
Gene: twnk has been classified as Amber List (Moderate Evidence).
Gene: twnk has been classified as Amber List (Moderate Evidence).
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