TWNK

twinkle mtDNA helicase
OMIM: 606075, Gene2Phenotype

19 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 19 panels
No list TWNK in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.121	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286
Green TWNK in Primary ovarian insufficiency Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 1.68	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Perrault syndrome 5, 616138
Green TWNK in White matter disorders and cerebral calcification - narrow panel Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 7 General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial Leukoencephalopathy
Green TWNK in Ataxia and cerebellar anomalies - narrow panel Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green 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 TWNK in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services 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 TWNK in Mitochondrial liver disease, including transient infantile liver failure Version 1.12 Latest signed off version: v1.9 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green 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 TWNK in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.180	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Mitochondrial Leukoencephalopathy General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial DNA depletion syndrome 7
Green TWNK in Mitochondrial DNA maintenance disorder Version 3.6 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green 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
Red TWNK in Adult onset neurodegenerative disorder Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH 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 TWNK in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 TWNK in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green 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 TWNK in Possible mitochondrial disorder - nuclear genes Version 3.106 Latest signed off version: v3.105 (1 May 2024)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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
Amber TWNK in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.478	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS South West GLH UKGTN Emory Genetics Laboratory Phenotypes Hereditary Neuropathies Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy
Green TWNK in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 6.4 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Expert 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 TWNK in Hereditary ataxia with onset in adulthood Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 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
Amber TWNK in Hereditary neuropathy or pain disorder Version 4.11 Latest signed off version: v4.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH UKGTN Emory Genetics Laboratory London North GLH NHS GMS London North GLH NHS GMS South West GLH Phenotypes Hereditary Neuropathies Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy
Red TWNK in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH
Green TWNK in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Perrault syndrome 5, 616138 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
Red TWNK in Paediatric pseudo-obstruction syndrome Version 1.5 Latest signed off version: v1.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 Perrault syndrome 5, OMIM:616138

TWNK

19 panels

No list TWNK in Parkinson Disease and Complex Parkinsonism

Sources

Phenotypes

Green TWNK in Primary ovarian insufficiency

Sources

Phenotypes

Green TWNK in White matter disorders and cerebral calcification - narrow panel

Sources

Phenotypes

Green TWNK in Ataxia and cerebellar anomalies - narrow panel

Sources

Phenotypes

Green TWNK in Hereditary ataxia

Sources

Phenotypes

Green TWNK in Mitochondrial liver disease, including transient infantile liver failure

Sources

Phenotypes

Green TWNK in Inherited white matter disorders

Sources

Phenotypes

Green TWNK in Mitochondrial DNA maintenance disorder

Sources

Phenotypes

Red TWNK in Adult onset neurodegenerative disorder

Sources

Phenotypes

Green TWNK in Undiagnosed metabolic disorders

Sources

Phenotypes

Green TWNK in Likely inborn error of metabolism - targeted testing not possible

Sources

Phenotypes

Green TWNK in Possible mitochondrial disorder - nuclear genes

Sources

Phenotypes

Amber TWNK in Hereditary neuropathy

Sources

Phenotypes

Green TWNK in Mitochondrial disorders

Sources

Phenotypes

Green TWNK in Hereditary ataxia with onset in adulthood

Sources

Phenotypes

Amber TWNK in Hereditary neuropathy or pain disorder

Sources

Phenotypes

Red TWNK in Childhood onset dystonia, chorea or related movement disorder

Sources

Green TWNK in Severe Paediatric Disorders

Sources

Phenotypes

Red TWNK in Paediatric pseudo-obstruction syndrome

Sources

Phenotypes