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Childhood onset hereditary spastic paraplegia v2.40 CYP7B1 Arina Puzriakova Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive, 270800 to Spastic paraplegia 5A, autosomal recessive, OMIM:270800
Childhood onset hereditary spastic paraplegia v1.140 CYP7B1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.140 CYP7B1 Louise Daugherty Publications for gene: CYP7B1 were set to 19439420; 18252231
Childhood onset hereditary spastic paraplegia v1.75 CYP7B1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP7B1.
Childhood onset hereditary spastic paraplegia v1.74 CYP7B1 Louise Daugherty commented on gene: CYP7B1: 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 CYP7B1 Nick Beauchamp reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252231, 19187859, 29126212; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.48 CYP7B1 Louise Daugherty reviewed gene: CYP7B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 CYP7B1 James Polke reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive, 270800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 CYP7B1 Louise Daugherty Source NHS GMS was added to CYP7B1.
Childhood onset hereditary spastic paraplegia v1.4 CYP7B1 Louise Daugherty Source London North GLH was added to CYP7B1.
Childhood onset hereditary spastic paraplegia v1.3 CYP7B1 Louise Daugherty Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800 for gene: CYP7B1
Childhood onset hereditary spastic paraplegia v0.94 CYP7B1 Louise Daugherty Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive to Spastic paraplegia 5A, autosomal recessive, 270800
Childhood onset hereditary spastic paraplegia v0.93 CYP7B1 Louise Daugherty Publications for gene: CYP7B1 were set to Tsaousidou et al. (2008) i
Childhood onset hereditary spastic paraplegia v0.62 CYP7B1 Arianna Tucci commented on gene: CYP7B1
Childhood onset hereditary spastic paraplegia v0.6 CYP7B1 Sarah Leigh gene: CYP7B1 was added
gene: CYP7B1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7B1 were set to Tsaousidou et al. (2008) i
Phenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive