Hereditary ataxia
Gene: TWNKadded new-gene-name tag, HGNC Approved Gene Symbol is TWNKCreated: 22 May 2017, 11:38 a.m.
Comment on list classification: Good evidence from expert and OMIMCreated: 4 Feb 2016, 2:42 p.m.
Fine. Lots of evidence. Postives in our cohort. Mode of inheritance/pathogenicity: autosomal dominant, Dominant Negative? (Autosomal Recessive for mtDNA depletion phenotypes)Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ataxia Neuropathy Spectrum Disorders (Dominant); Spinocerebellar Ataxia, Recessive
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: TWNK were changed from Ataxia Neuropathy Spectrum Disorders (Dominant); Spinocerebellar Ataxia, Recessive to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
C10orf2 was changed to TWNK
new-gene-name was removed from C10orf2. Panel: Hereditary ataxia
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
C10orf2 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services