Genes in panel

Ataxia and cerebellar anomalies - narrow panel


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

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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