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 5.3	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 with onset in adulthood R-numbers: R54 Signed-off version 5.3	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 Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 5.6	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286, Perrault syndrome 5, OMIM:616138
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286, Perrault syndrome 5, OMIM:616138
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 3.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286, Perrault syndrome 5, OMIM:616138
Green in Mitochondrial liver disease, including transient infantile liver failure R-numbers: R317 Signed-off version 1.9	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286, Perrault syndrome 5, OMIM:616138
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286, Perrault syndrome 5, OMIM:616138
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 7, General Leukodystrophy & Mitochondrial Leukoencephalopathy, Mitochondrial Leukoencephalopathy