Brugada syndrome and cardiac sodium channel disease
Gene: SLMAP
No links to phenotypes on OMIMCreated: 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
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/10163Created: 20 Feb 2019, 2:47 p.m.
Mode of inheritance
Disputed
Phenotypes
Brugada syndrome; MONDO_0015263
Comment when marking as ready: Not on Manchester diagnostic panelCreated: 11 Feb 2016, 12:21 p.m.
Phenotypes for gene: SLMAP were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Source South West GLH was added to SLMAP. Mode of inheritance for gene SLMAP was changed from to Unknown
This gene has been classified as Red List (Low Evidence).
SLMAP was added to Brugada syndromepanel. Sources: Expert list