Genes in panel
Regions in panel
Prev Next

Intellectual disability

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

4 reviews

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Little evidence currently available to suggest a link between variants in this gene and intellectual disability. One paper describes three sisters from a consanguineous family with spinocerebellar ataxia (autosomal recessive), two of whom went onto develop moderate mental retardation after developing epilepsy at 7 months old (epileptic seizures from 7 months - 3 years of age). Unsure as to the origin of the intellectual disability - from the variant or from the epilepsy.
Created: 12 Mar 2018, 9:47 a.m.
New gene symbol: RUBCN. Only one paper describing a possible link between variants in this gene and intellectual disability in 3 siblings of the same consanguineous family.
Created: 13 Dec 2017, 10:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY

Publications

  • 0

Louise Daugherty (Genomics England Curator)

added new-gene-name tag. New HGNC approved gene symbol RUBCN
Created: 13 Jun 2017, 11:28 a.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY
OMIM
613516
Clinvar variants
Variants in RUBCN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene RUBCN was set to ['20826435']

6 Nov 2017, Gel status: 1

Changed Gene Name

Louise Daugherty (Genomics England Curator)

KIAA0226 was changed to RUBCN

6 Nov 2017, Gel status: 1

Added New Source, Removed Tag

Louise Daugherty (Genomics England Curator)

Other was added to KIAA0226. Panel: Intellectual disability new-gene-name was removed from KIAA0226. Panel: Intellectual disability

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KIAA0226 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KIAA0226 was created by ellenmcdonagh