Hereditary ataxia - adult onsetGene: SLC1A3
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.
Handful of missense variants reported, some de novo and some with functional evidence. Caution advised with variants reported by Pyle (2016), and both Choi et al., papers as these appear at reasonable frequencies in gnomAD
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Episodic ataxia type 6, 612656
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Episodic ataxia type 6, 612656 for gene: SLC1A3
Source NHS GMS was added to SLC1A3.
Source Wessex and West Midlands GLH was added to SLC1A3.
Checked panel against panel constituents. Ready to promote to version 1.
gene: SLC1A3 was added gene: SLC1A3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC1A3 were set to 27829685; 16116111; 19139306 Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6