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Genetic epilepsy syndromes

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

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

AR ?SCA15 - Asoum et al, 2010 - consang Saudi family - 3 sisters onset of cerebellar ataxia in early childhood, 2 sisters more severe and both developed epilepsy at age 7 months. Jhom mutation identified - segregated with disease and het carriers unaff.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spinocerebellar ataxia 15, 615705

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as possible Gen2Phen gene. At least 1 variant.
Created: 10 Apr 2018, 4:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spinocerebellar ataxia, autosomal recessive 15 615705

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
Phenotypes
  • ?Spinocerebellar ataxia, autosomal recessive 15 615705
OMIM
613516
Clinvar variants
Variants in RUBCN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to RUBCN.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to RUBCN.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Gene originally listed on the

10 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

RUBCN was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review

10 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

RUBCN was created by Sarah Leigh