Childhood onset hereditary spastic paraplegia
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.Created: 9 May 2019, 4:54 p.m.
In current HSP panel and In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 5A, autosomal recessive, 270800
Variable age at onset for SPG5A , childhhod onset described (19439420)Created: 14 Jan 2019, 4:37 p.m.
Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive, 270800 to Spastic paraplegia 5A, autosomal recessive, OMIM:270800
Publications for gene: CYP7B1 were set to 19439420; 18252231
Source Yorkshire and North East GLH was added to CYP7B1.
Source NHS GMS was added to CYP7B1.
Source London North GLH was added to CYP7B1.
Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800 for gene: CYP7B1
Arianna Tucci: Variable age at onset for SPG5
Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive to Spastic paraplegia 5A, autosomal recessive, 270800
Publications for gene: CYP7B1 were set to Tsaousidou et al. (2008) i
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