Adult onset neurodegenerative disorder
Gene: BEAN1
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Point mutations not associated with SCA31Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 31, 117210
Source NHS GMS was added to BEAN1.
Source Yorkshire and North East GLH was added to BEAN1.
Rebecca Foulger: Gene awaiting curator evaluati
Tag nucleotide-repeat-expansion tag was added to gene: BEAN1. Tag currently-ngs-unreportable tag was added to gene: BEAN1. Tag structural-variant tag was added to gene: BEAN1.
gene: BEAN1 was added gene: BEAN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: BEAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BEAN1 were set to 19878914 Phenotypes for gene: BEAN1 were set to Spinocerebellar ataxia 31 117210