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Childhood onset hereditary spastic paraplegia v1.141 CYP2U1 Louise Daugherty Publications for gene: CYP2U1 were set to 23176821
Childhood onset hereditary spastic paraplegia v1.140 CYP2U1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.75 CYP2U1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP2U1.
Childhood onset hereditary spastic paraplegia v1.74 CYP2U1 Louise Daugherty commented on gene: CYP2U1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.73 CYP2U1 Nick Beauchamp reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821, 24337409; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.48 CYP2U1 Louise Daugherty reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 CYP2U1 James Polke reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 56, autosomal recessive, 615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 CYP2U1 Louise Daugherty Source NHS GMS was added to CYP2U1.
Childhood onset hereditary spastic paraplegia v1.4 CYP2U1 Louise Daugherty Source London North GLH was added to CYP2U1.
Childhood onset hereditary spastic paraplegia v1.3 CYP2U1 Louise Daugherty Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1
Childhood onset hereditary spastic paraplegia v0.92 CYP2U1 Louise Daugherty Publications for gene: CYP2U1 were set to Tesson et al. (2012)
Childhood onset hereditary spastic paraplegia v0.91 CYP2U1 Louise Daugherty Phenotypes for gene: CYP2U1 were changed from Spastic paraplegia 56, autosomal recessive to Spastic paraplegia 56, autosomal recessive, 615030
Childhood onset hereditary spastic paraplegia v0.62 CYP2U1 Arianna Tucci commented on gene: CYP2U1
Childhood onset hereditary spastic paraplegia v0.6 CYP2U1 Sarah Leigh gene: CYP2U1 was added
gene: CYP2U1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2U1 were set to Tesson et al. (2012)
Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive