Hereditary spastic paraplegia - adult onsetGene: CYP2U1
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.
Victoria: may have a subclinical axonal neuropathy. MRI: white matter abnormality, thin corpus callosum. Several unrelated families published. In Sheffields HSP panel
Created: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic paraplegia 56, autosomal recessive, 615030
Publications for gene: CYP2U1 were set to
Source Yorkshire and North East GLH was added to CYP2U1.
Source Expert Review Green was added to CYP2U1. Mode of inheritance for gene CYP2U1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to CYP2U1.
gene: CYP2U1 was added gene: CYP2U1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CYP2U1 was set to