Hereditary ataxia
Gene: TWNKEnsemblGeneIds (GRCh38): ENSG00000107815
EnsemblGeneIds (GRCh37): ENSG00000107815
OMIM: 606075, Gene2Phenotype
TWNK is in 18 panels
3 reviews
Louise Daugherty (Genomics England Curator)
added new-gene-name tag, HGNC Approved Gene Symbol is TWNKCreated: 22 May 2017, 11:38 a.m.
Damian Smedley (Genomics England Curator)
Comment on list classification: Good evidence from expert and OMIMCreated: 4 Feb 2016, 2:42 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR)
- Perrault syndrome 5, OMIM:616138 (AR)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD)
- OMIM
- 606075
- Clinvar variants
- Variants in TWNK
- Penetrance
- Complete
- Panels with this gene
-
- Mitochondrial liver disease, including transient infantile liver failure
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Primary ovarian insufficiency
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Hereditary ataxia
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TWNK were changed from 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 to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR); Perrault syndrome 5, OMIM:616138 (AR); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD)
Set Phenotypes
Louise Daugherty (Genomics England Curator)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
Changed Gene Name
GEL ()C10orf2 was changed to TWNK
Removed Tag
GEL ()new-gene-name was removed from C10orf2. Panel: Hereditary ataxia
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)C10orf2 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services