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27 Apr 2019	Hereditary ataxia with onset in adulthood v1.14	TWNK	Louise Daugherty commented on gene: TWNK: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
27 Apr 2019	Hereditary ataxia with onset in adulthood v1.13	TWNK	Louise Daugherty Source London North GMS was added to TWNK.
27 Apr 2019	Hereditary ataxia with onset in adulthood v1.11	TWNK	James Polke reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
15 Apr 2019	Hereditary ataxia with onset in adulthood v1.9	TWNK	Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 7, 271245; Perrault syndrome 5, 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286 for gene: TWNK
15 Apr 2019	Hereditary ataxia with onset in adulthood v1.8	TWNK	Louise Daugherty reviewed gene: TWNK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
15 Apr 2019	Hereditary ataxia with onset in adulthood v1.7	TWNK	Tracy Lester reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 7, 271245, Perrault syndrome 5, 616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
14 Apr 2019	Hereditary ataxia with onset in adulthood v1.2	TWNK	Louise Daugherty Source NHS GMS was added to TWNK.
14 Apr 2019	Hereditary ataxia with onset in adulthood v1.1	TWNK	Louise Daugherty Source Wessex and West Midlands GLH was added to TWNK.
09 Jan 2019	Hereditary ataxia with onset in adulthood v0.42	TWNK	Louise Daugherty Phenotypes for gene: TWNK were changed from 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 to 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
09 Jan 2019	Hereditary ataxia with onset in adulthood v0.41	TWNK	Louise Daugherty Phenotypes for gene: TWNK were changed from Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant) to 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
15 Dec 2018	Hereditary ataxia with onset in adulthood v0.2	TWNK	Eleanor Williams gene: TWNK was added gene: TWNK was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TWNK were set to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant)