Hereditary ataxia - adult onsetGene: APTX
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 families in literature and positives within our own cohort
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Early onset ataxia with oculomotor apraxia and hypoalbuminemia
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Early onset ataxia with oculomotor apraxia and hypoalbuminemia for gene: APTX
Source NHS GMS was added to APTX.
Source Wessex and West Midlands GLH was added to APTX.
Checked panel against panel constituents. Ready to promote to version 1.
gene: APTX was added gene: APTX was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APTX were set to Ataxia with Oculomotor Apraxia; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia