Hereditary ataxia with onset in adulthood
Gene: CYP27A1
In Oxford and Sheffield panels. Accumulation of cholesterol in brain causes seizures / movement disorders. 103 DM in HGMD.Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
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 literatureCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrotendinous xanthomatosis, 213700
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to CYP27A1.
Added phenotypes Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1
Source NHS GMS was added to CYP27A1.
Source Wessex and West Midlands GLH was added to CYP27A1.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, 213700
gene: CYP27A1 was added gene: CYP27A1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal