Genes in panel

Ataxia and cerebellar anomalies - narrow panel

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 6 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Spinocerebellar ataxia 31 117210
OMIM
612051
Clinvar variants
Variants in BEAN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: BEAN1 was added gene: BEAN1 was added to Ataxia and cerebellar anomalies - narrow panel. 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