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Hereditary ataxia with onset in adulthood v2.144 RORA Eleanor Williams Tag Q2_21_phenotype was removed from gene: RORA.
Hereditary ataxia with onset in adulthood v2.144 RORA Sarah Leigh commented on gene: RORA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary ataxia with onset in adulthood v2.143 RORA Eleanor Williams Source Expert Review Amber was added to RORA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v2.67 RORA Sarah Leigh Publications for gene: RORA were set to
Hereditary ataxia with onset in adulthood v2.66 RORA Sarah Leigh Tag Q2_21_phenotype tag was added to gene: RORA.
Hereditary ataxia with onset in adulthood v2.66 RORA Sarah Leigh commented on gene: RORA
Hereditary ataxia with onset in adulthood v2.66 RORA Sarah Leigh Phenotypes for gene: RORA were changed from Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia OMIM:618060; intellectual developmental disorder with or without epilepsy or cerebellar ataxia MONDO:0060745
Hereditary ataxia with onset in adulthood v2.9 RORA Zornitza Stark reviewed gene: RORA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.111 RORA Louise Daugherty Mode of inheritance for gene: RORA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.110 RORA Louise Daugherty Mode of pathogenicity for gene: RORA was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary ataxia with onset in adulthood v1.109 RORA Louise Daugherty Classified gene: RORA as Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.109 RORA Louise Daugherty Gene: rora has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v1.14 RORA Louise Daugherty commented on gene: RORA: 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 RORA Louise Daugherty Source London North GMS was added to RORA.
Hereditary ataxia with onset in adulthood v1.11 RORA James Polke reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.9 RORA Louise Daugherty Added phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 for gene: RORA
Hereditary ataxia with onset in adulthood v1.8 RORA Louise Daugherty reviewed gene: RORA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 RORA Tracy Lester reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.2 RORA Louise Daugherty Source NHS GMS was added to RORA.
Hereditary ataxia with onset in adulthood v1.1 RORA Louise Daugherty gene: RORA was added
gene: RORA was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RORA was set to