Mitochondrial liver disease, including transient infantile liver failure
Gene: TWNK
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: TWNK; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.Created: 1 Feb 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286
Publications
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
added new-gene-name tag, HGNC Approved Gene Symbol is TWNKCreated: 22 May 2017, 11:38 a.m.
This gene was submitted as "PEO1" by two experts, which likely corresponds to this HGNC-approved symbol. Illumina source has this gene as both dominant (for Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions) and recessive (for Mitochondrial Membrane Protein-Associated Neurodegeneration and Mitochondrial DNA Depletion Syndrome).Created: 1 Jul 2015, 2:36 p.m.
Phenotypes for gene: TWNK were changed from Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286; Perrault syndrome 5, OMIM:616138
gene: TWNK was added gene: TWNK was added to Mitochondrial liver disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: TWNK were set to 30391088 Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286