Hereditary ataxia with onset in adulthood
Gene: FLVCR1
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 reports in the lit, also associated with isolated RPCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Posterior column ataxia with retinitis pigmentosa, 609033
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Posterior column ataxia with retinitis pigmentosa, 609033 for gene: FLVCR1
Source NHS GMS was added to FLVCR1.
Source Wessex and West Midlands GLH was added to FLVCR1.
Checked panel against panel constituents. Ready to promote to version 1.
gene: FLVCR1 was added gene: FLVCR1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLVCR1 were set to Posterior Column Ataxia with Retinitis Pigmentosa; Ataxia, posterior column, with retinitis pigmentosa,