Congenital ophthalmoplegia
Gene: TWNK
Mitochondrial DNA depletion syndrome-7: biallelic, severe neurodegenerative disorder characterized primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy. Infantile onset
PMID: 32234020: Fig 1 shows the variant distribution for various phenotypes
Sources: LiteratureCreated: 16 Nov 2020, 11:18 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 609286
Publications
Gene: twnk has been classified as Green List (High Evidence).
Gene: twnk has been classified as Green List (High Evidence).
gene: TWNK was added gene: TWNK was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TWNK were set to PMID 17921179; 32234020 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 609286 Review for gene: TWNK was set to GREEN