Hereditary ataxia - adult onsetGene: SYT14
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.
Single family with a homozygous missense variant reported (also second family with a translocation disrupting gene but no known second hit). Insufficient evidence for inclusion
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Autosomal recessive spinocerebellar ataxia 11, 614229
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Autosomal recessive spinocerebellar ataxia 11, 614229 for gene: SYT14
Source NHS GMS was added to SYT14.
Source Wessex and West Midlands GLH was added to SYT14.
Louise Daugherty: Comment on phenotypes: Implica
gene: SYT14 was added gene: SYT14 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYT14 were set to Spinocerebellarataxia,autosomalrecessive11,614229