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Hereditary ataxia with onset in adulthood v2.144 XRCC1 Eleanor Williams Tag Q2_21_expert_review was removed from gene: XRCC1.
Hereditary ataxia with onset in adulthood v2.144 XRCC1 Sarah Leigh commented on gene: XRCC1
Hereditary ataxia with onset in adulthood v2.80 XRCC1 Arina Puzriakova edited their review of gene: XRCC1: Changed publications to: 28002403, 29472272; Changed phenotypes to: Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v2.80 XRCC1 Arina Puzriakova Tag Q2_21_expert_review tag was added to gene: XRCC1.
Hereditary ataxia with onset in adulthood v2.80 XRCC1 Arina Puzriakova Classified gene: XRCC1 as Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v2.80 XRCC1 Arina Puzriakova Added comment: Comment on list classification: This gene will be flagged for GMS review to determine whether there is enough evidence to include XRCC1 on this panel as Green. Only one case with adult onset and the other two with onset in childhood, however inclusion may be justified to ensure identification of edge cases.
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Three individuals from unrelated families all from South Asian descent with cerebellar ataxia and peripheral neuropathy and a recurrent variant (c.1293G>C, 2 homozygotes and a comp het) in the XRCC1 gene. Homozygosity mapping in 2 families confirmed a shared haplotype and the recurrent variant is found in a heterozygous state in an unaffected sib and 4 individuals of South Asian descent in ExAC - indicating that this is a founder variant that is pathogenic when when in trans with a second variant. There is some strong functional evidence that supports pathogenicity, including an animal model that recapitulated human phenotypes such as cerebellar ataxia.
Hereditary ataxia with onset in adulthood v2.80 XRCC1 Arina Puzriakova Gene: xrcc1 has been classified as Amber List (Moderate Evidence).
Hereditary ataxia with onset in adulthood v2.79 XRCC1 Arina Puzriakova Tag watchlist was removed from gene: XRCC1.
Tag founder-effect tag was added to gene: XRCC1.
Hereditary ataxia with onset in adulthood v2.79 XRCC1 Arina Puzriakova Publications for gene: XRCC1 were set to 28002403
Hereditary ataxia with onset in adulthood v2.78 XRCC1 Arina Puzriakova Phenotypes for gene: XRCC1 were changed from ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia; Autosomal recessive spinocerebellar ataxia 26, 617633 to Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633
Hereditary ataxia with onset in adulthood v1.189 XRCC1 Louise Daugherty Tag watchlist tag was added to gene: XRCC1.
Hereditary ataxia with onset in adulthood v1.188 XRCC1 Louise Daugherty commented on gene: XRCC1: Added watchlist tag. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Hereditary ataxia with onset in adulthood v1.37 XRCC1 Louise Daugherty Classified gene: XRCC1 as Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v1.37 XRCC1 Louise Daugherty Gene: xrcc1 has been classified as Amber List (Moderate Evidence).
Hereditary ataxia with onset in adulthood v1.14 XRCC1 Louise Daugherty commented on gene: XRCC1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Hereditary ataxia with onset in adulthood v1.13 XRCC1 Louise Daugherty Source London North GMS was added to XRCC1.
Hereditary ataxia with onset in adulthood v1.11 XRCC1 James Polke reviewed gene: XRCC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.9 XRCC1 Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 26, 617633 for gene: XRCC1
Hereditary ataxia with onset in adulthood v1.8 XRCC1 Louise Daugherty reviewed gene: XRCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 XRCC1 Tracy Lester reviewed gene: XRCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 26, 617633; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.2 XRCC1 Louise Daugherty Source NHS GMS was added to XRCC1.
Hereditary ataxia with onset in adulthood v1.1 XRCC1 Louise Daugherty Source Wessex and West Midlands GLH was added to XRCC1.
Hereditary ataxia with onset in adulthood v0.2 XRCC1 Eleanor Williams gene: XRCC1 was added
gene: XRCC1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 28002403
Phenotypes for gene: XRCC1 were set to ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia