Hereditary ataxia

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

2 reviews

Louise Daugherty (Genomics England Curator)

Updated gene symbol from KIAA0226 to HGNC approved gene RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein.
Removed new-gene-name-tag
Created: 6 Nov 2017, 3:09 p.m.
added new-gene-name tag
Created: 9 Dec 2016, 4:34 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Looks like only single family
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
OMIM
613516
Clinvar variants
Variants in RUBCN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Nov 2017, Gel status: 1

Changed Gene Name

Louise Daugherty (Genomics England Curator)

RUBCNL was changed to RUBCN

6 Nov 2017, Gel status: 1

Changed Gene Name

Louise Daugherty (Genomics England Curator)

KIAA0226 was changed to RUBCNL

6 Nov 2017, Gel status: 1

Removed Tag

Louise Daugherty (Genomics England Curator)

new-gene-name was removed from KIAA0226. Panel: Hereditary ataxia

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Jul 2016, Gel status: 1

Set publications

emma baple (Genomics England Curator)

Publications for KIAA0226 were set to PMID: 20826435

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KIAA0226 was added to Hereditary ataxiapanel. Sources: UKGTN