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Hereditary ataxia with onset in adulthood v1.9 CYP2U1 Louise Daugherty Added phenotypes Spastic paraplegia type 56, 615030 for gene: CYP2U1
Hereditary ataxia with onset in adulthood v1.8 CYP2U1 Louise Daugherty reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 CYP2U1 Tracy Lester reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia type 56, 615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.2 CYP2U1 Louise Daugherty Source NHS GMS was added to CYP2U1.
Hereditary ataxia with onset in adulthood v1.1 CYP2U1 Louise Daugherty Source Wessex and West Midlands GLH was added to CYP2U1.
Hereditary ataxia with onset in adulthood v0.2 CYP2U1 Eleanor Williams gene: CYP2U1 was added
gene: CYP2U1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.