Brugada syndrome

Gene: SLMAP

Red List (low evidence)

SLMAP (sarcolemma associated protein)
EnsemblGeneIds (GRCh38): ENSG00000163681
EnsemblGeneIds (GRCh37): ENSG00000163681
OMIM: 602701, Gene2Phenotype
SLMAP 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.
No strong evidence for this gene. Only one report - variant described does not come up on Alamut. The Val269Ile variant is sufficiently rare but not enough information. https://www.ncbi.nlm.nih.gov/pubmed/23064965?dopt=Abstract.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
Unknown

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/10163
Created: 20 Feb 2019, 2:47 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)

Red List (low evidence)

Details

Mode of Inheritance
Unknown
Sources
  • South West GLH
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada/Brugada like syndrome
OMIM
602701
Clinvar variants
Variants in SLMAP
Penetrance
Complete
Panels with this gene

History Filter Activity

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 SLMAP. Mode of inheritance for gene SLMAP was changed from to Unknown

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)

SLMAP was added to Brugada syndromepanel. Sources: Expert list