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Hereditary ataxia with onset in adulthood v1.9 TSEN34 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 2C, 612390 for gene: TSEN34
Hereditary ataxia with onset in adulthood v1.8 TSEN34 Louise Daugherty reviewed gene: TSEN34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 TSEN34 Tracy Lester reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2C, 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.2 TSEN34 Louise Daugherty Source NHS GMS was added to TSEN34.
Hereditary ataxia with onset in adulthood v1.1 TSEN34 Louise Daugherty Source Wessex and West Midlands GLH was added to TSEN34.
Hereditary ataxia with onset in adulthood v0.2 TSEN34 Eleanor Williams gene: TSEN34 was added
gene: TSEN34 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN34 were set to Pontocerebellar hypoplasia 2C (612390)