Brugada syndrome

Gene: RANGRF

Red List (low evidence)

RANGRF (RAN guanine nucleotide release factor)
EnsemblGeneIds (GRCh38): ENSG00000108961
EnsemblGeneIds (GRCh37): ENSG00000108961
OMIM: 607954, Gene2Phenotype
RANGRF is in 2 panels

4 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

No links to phenotypes on OMIM
Created: 25 Mar 2019, 4:30 p.m.
Some frequency >1% associated with the variant described in the Olesen paper (21621375). Uncertain role for this gene concluded in Campuzano paper (24142675). Literature suggests that this could be a 'susceptibility' gene. https://www.ncbi.nlm.nih.gov/pubmed/21621375?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/24142675?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/21447824?dopt=Abstract.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
Unknown

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

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10157
Created: 20 Feb 2019, 2:47 p.m.
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

Mode of inheritance
Disputed

Phenotypes
Brugada syndrome; MONDO_0015263

Caroline Wright (Genomics England Curator)

Comment when marking as ready: Not on Manchester diagnostic panel
Created: 11 Feb 2016, 12:21 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Details

Mode of Inheritance
Unknown
Sources
  • South West GLH
  • London South GLH
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada syndrome, MONDO:0015263
OMIM
607954
Clinvar variants
Variants in RANGRF
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: RANGRF were changed from Brugada/Brugada like syndrome, MONDO:0015263 to Brugada syndrome, MONDO:0015263

2 Mar 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: RANGRF were changed from Brugada/Brugada like syndrome to Brugada/Brugada like syndrome, MONDO:0015263

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to RANGRF. Mode of inheritance for gene RANGRF was changed from to Unknown

20 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to RANGRF.

11 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

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

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RANGRF was added to Brugada syndromepanel. Sources: Expert list