Childhood onset hereditary spastic paraplegia
Gene: CYP2U1
Childhood onset till age 8. Multiple families reported.Created: 9 May 2019, 11:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
Victoria: may have a subclinical axonal neuropathy. MRI: white matter abnormality, thin corpus callosum. Several unrelated families published. In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 56, autosomal recessive, 615030
Onset of SPASTIC PARAPLEGIA 56 in the first decadeCreated: 14 Jan 2019, 4:36 p.m.
Publications for gene: CYP2U1 were set to 23176821
Source Yorkshire and North East GLH was added to CYP2U1.
Source NHS GMS was added to CYP2U1.
Source London North GLH was added to CYP2U1.
Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1
Arianna Tucci: Onset of SPASTIC PARAPLEGIA 5
Publications for gene: CYP2U1 were set to Tesson et al. (2012)
Phenotypes for gene: CYP2U1 were changed from Spastic paraplegia 56, autosomal recessive to Spastic paraplegia 56, autosomal recessive, 615030
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