Hereditary ataxia - adult onsetGene: RARS2
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 variants and families reported in the literature
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Pontocerebellar hypoplasia 6, 611523
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Pontocerebellar hypoplasia 6, 611523 for gene: RARS2
Source NHS GMS was added to RARS2.
Source Wessex and West Midlands GLH was added to RARS2.
Checked panel against panel constituents. Ready to promote to version 1.
gene: RARS2 was added gene: RARS2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RARS2 were set to epilepsy; Pontocerebellar hypoplasia