Genomics England

TWNK

twinkle mtDNA helicase

Panel	Mode of inheritance	Details
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Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 3.1	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
Green in Hereditary ataxia - adult onset R-numbers: R54 Signed-off version 3.1	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
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 3.2	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)
Green in Mitochondrial disorders Component of the following Super Panels: - White matter disorders - childhood onset Signed-off version 3.1	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)
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 2.1	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
Green in Mitochondrial liver disease 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
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 2.2	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
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - White matter disorders - childhood onset Signed-off version 2.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 7, General Leukodystrophy & Mitochondrial Leukoencephalopathy, Mitochondrial Leukoencephalopathy