Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: RUBCN

Red List (low evidence)

RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000145016
EnsemblGeneIds (GRCh37): ENSG00000145016
OMIM: 613516, Gene2Phenotype
RUBCN is in 7 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three consanguineous families reported in the literature with homozygous truncating variants in this gene and ataxia. Two have the same founder variant. Supportive in vitro assays.
Created: 12 Sep 2020, 7:43 a.m. | Last Modified: 12 Sep 2020, 7:43 a.m.
Panel Version: 2.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 15, MIM#615705

Publications

Variants in this GENE are reported as part of current diagnostic practice

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

Ellen McDonagh (Genomics England Curator)

gene: RUBCN was added gene: RUBCN was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RUBCN were set to PMID: 20826435