Ataxia - paediatric
Gene: TWNKEnsemblGeneIds (GRCh38): ENSG00000107815
EnsemblGeneIds (GRCh37): ENSG00000107815
OMIM: 606075, Gene2Phenotype
TWNK is in 19 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 32234020: Fig 1 shows variant distribution for all condition:
- Missense within the linker region have only been reported for PEOA (AD). No other patterns for AD vs AR missense.
- Missense in N-terminal motifs generally cause PEOA
- PTCs reported for AR conditions
- Same variant has been reported for both AR Perrault and mito depletion conditions (p.N399S).
PMID: 18593709: Missense transfected into Schneider cells could form hexamers, had no effect on protein expression, had both loss and gain of mtDNA copy numbers and loss of ATPase activity when overexpressed with endogenous protein
No evidence of GOF mechanism foundCreated: 28 Jul 2020, 11:51 p.m. | Last Modified: 28 Jul 2020, 11:51 p.m.
Panel Version: 0.3551
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
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 7, 271245
- Ataxia Neuropathy Spectrum Disorders, Dominant
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286
- Perrault syndrome 5, 616138
- Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
- Spinocerebellar Ataxia, Recessive
- OMIM
- 606075
- Clinvar variants
- Variants in TWNK
- Penetrance
- None
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Congenital ophthalmoplegia
- Genetic Epilepsy
- Differences of Sex Development
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Early-onset Parkinson disease
- Regression
- Leukodystrophy - paediatric
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TWNK was added gene: TWNK was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7, 271245; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Spinocerebellar Ataxia, Recessive