1. Panels
  2. Hereditary ataxia
  3. BEAN1

Hereditary ataxia

Gene: BEAN1

Red List (low evidence)
BEAN1 (brain expressed associated with NEDD4 1)
EnsemblGeneIds (GRCh38): ENSG00000166546
EnsemblGeneIds (GRCh37): ENSG00000166546
OMIM: 612051, Gene2Phenotype
BEAN1 is in 5 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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

Phenotypes
Spinocerebellar ataxia 31 117210

Publications

Created: 14 Dec 2017, 4:21 p.m.

Panel version: 1.83

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Spinocerebellar ataxia 31 117210
Tags
nucleotide-repeat-expansion currently-ngs-unreportable structural-variant
OMIM
612051
Clinvar variants
Variants in BEAN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Dec 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

BEAN1 was added to Hereditary ataxia panel. Sources: Literature

14 Dec 2017, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

BEAN1 was created by Sarah Leigh