Ataxia - adult onset
Gene: BEAN1

BEAN1 (brain expressed associated with NEDD4 1)
EnsemblGeneIds (GRCh38): ENSG00000166546
EnsemblGeneIds (GRCh37): ENSG00000166546
OMIM: 612051, Gene2Phenotype
BEAN1 is in 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Repeat is the only reported cause of condition, which cannot be detected with current NGS technology.
Created: 17 Apr 2020, 2:07 a.m. | Last Modified: 17 Apr 2020, 2:07 a.m.

Panel Version: 0.22

A 2.5- to 3.8-kb insertion containing pentanucleotide repeats, including a (TGGAA)n sequence, in the BEAN gene was identified in 160 affected individuals from 98 families.
Created: 17 Apr 2020, 2:06 a.m. | Last Modified: 17 Apr 2020, 2:06 a.m.

Panel Version: 0.21

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 31 MIM#117210

Publications

19878914

Created: 17 Apr 2020, 2:06 a.m.
Last Modified: 17 Apr 2020, 2:06 a.m.
Panel version: 0.21

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Pentanucleotide expansion disorder, founder effect.
Created: 27 Dec 2019, 4:23 a.m. | Last Modified: 27 Dec 2019, 4:23 a.m.

Panel Version: 0.41

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 31, MIM#117210

Mode of pathogenicity
Other

Created: 27 Dec 2019, 4:23 a.m.
Last Modified: 27 Dec 2019, 4:23 a.m.
Panel version: Imported from Ataxia panel version 0.41

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Removed
Expert list
Victorian Clinical Genetics Services

Phenotypes

Spinocerebellar ataxia 31, 117210
autosomal dominant cerebellar ataxia type III

Tags

STR

OMIM

612051

Clinvar variants

Variants in BEAN1

Penetrance

None

Panels with this gene