Hereditary ataxia with onset in adulthood
Gene: RUBCN
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.
Only a single family reported with a homozygous frameshift variant. Second family reported with two homozygous missense variants but no functional work and disparate phenotype (no cerebellar atrophy).Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia 15, 615705
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: RUBCN were changed from Autosomal recessive spinocerebellar ataxia 15, 615705 to Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705
Added phenotypes Autosomal recessive spinocerebellar ataxia 15, 615705 for gene: RUBCN
Source NHS GMS was added to RUBCN.
Source Wessex and West Midlands GLH was added to RUBCN.
Louise Daugherty: Comment on phenotypes: Implica
gene: RUBCN was added gene: RUBCN was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RUBCN were set to 20826435