Hereditary ataxia - adult onsetGene: CYP2U1
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Multiple cases in literature
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic paraplegia type 56, 615030
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Spastic paraplegia type 56, 615030 for gene: CYP2U1
Source NHS GMS was added to CYP2U1.
Source Wessex and West Midlands GLH was added to CYP2U1.
Checked panel against panel constituents. Ready to promote to version 1.
gene: CYP2U1 was added gene: CYP2U1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP2U1 were set to Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.