TWNK

twinkle mtDNA helicase
OMIM: 606075
PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
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
R-numbers: R54
Signed-off version 2.13
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 7, 271245, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286, Ataxia Neuropathy Spectrum Disorders, Dominant, Spinocerebellar Ataxia, Recessive, Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286, Perrault syndrome 5, 616138, Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic), Disorders of mitochondrial DNA maintenance and integrity, Mitochondrial DNA Depletion Syndrome (biallelic), Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Progressive external ophthalmoplegia, autosomal dominant, 3, 609286, Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245, Mitochondrial DNA Depletion Syndrome, Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic)
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Disorders of mitochondrial DNA maintenance and integrity, Progressive external ophthalmoplegia, autosomal dominant, 3, 609286, Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245, Mitochondrial DNA Depletion Syndrome, Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic), Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic), Mitochondrial DNA Depletion Syndrome (biallelic)
R-numbers: R352
Signed-off version 1.2
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
R-numbers: R317
Signed-off version 1.2
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
R-numbers: R63
Signed-off version 1.17
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
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 7, General Leukodystrophy & Mitochondrial Leukoencephalopathy, Mitochondrial Leukoencephalopathy