Hereditary ataxiaGene: BEAN1
Associated with phenotype in OMIM, not in G2P. A range of variants reported in Spinocerebellar ataxia 31 117210, comprising 2.5- to 3.8-kb insertions containing pentanucleotide repeats including a (TGGAA)n sequence in all 160 affected individuals from 98 families.
Created: 14 Dec 2017, 4:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Spinocerebellar ataxia 31 117210
BEAN1 was added to Hereditary ataxia panel. Sources: Literature
BEAN1 was created by Sarah Leigh