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Hereditary ataxia with onset in adulthood v1.9 RARS2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 6, 611523 for gene: RARS2
Hereditary ataxia with onset in adulthood v1.8 RARS2 Louise Daugherty reviewed gene: RARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 RARS2 Tracy Lester reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 6, 611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.2 RARS2 Louise Daugherty Source NHS GMS was added to RARS2.
Hereditary ataxia with onset in adulthood v1.1 RARS2 Louise Daugherty Source Wessex and West Midlands GLH was added to RARS2.
Hereditary ataxia with onset in adulthood v0.2 RARS2 Eleanor Williams gene: RARS2 was added
gene: RARS2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS2 were set to epilepsy; Pontocerebellar hypoplasia