Sudden cardiac death - previous panel
Gene: GPD1LEnsemblGeneIds (GRCh38): ENSG00000152642
EnsemblGeneIds (GRCh37): ENSG00000152642
OMIM: 611778, Gene2Phenotype
GPD1L is in 2 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
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.
James Eden (Manchester)
Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 13 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: disputed association with Brugada syndrome (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Brugada syndrome 2 (611777)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- London South GLH
- North West GLH
- London South GLH
- North West GLH
- Phenotypes
-
- Brugada syndrome 2
- Brugada syndrome 2 (611777)
- OMIM
- 611778
- Clinvar variants
- Variants in GPD1L
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: gpd1l has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: GPD1L was added gene: GPD1L was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: GPD1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GPD1L were set to 19666841; 27761167; 16301704; 19862833; 30420954 Phenotypes for gene: GPD1L were set to Brugada syndrome 2; Brugada syndrome 2 (611777)