Brugada syndrome
Gene: GPD1LEnsemblGeneIds (GRCh38): ENSG00000152642
EnsemblGeneIds (GRCh37): ENSG00000152642
OMIM: 611778, Gene2Phenotype
GPD1L is in 4 panels
3 reviews
Ivan Macciocca (Victorian Clinical Genetics Services)
disputed by ClinGen (21/11/2017) and as reported in Circulation. 2018;138:1195–1205 (PMID: 29959160)Created: 31 May 2020, 12:44 p.m. | Last Modified: 31 May 2020, 12:44 p.m.
Panel Version: 0.13
Publications
- PMID: 29959160
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Rated as DISPUTED by ClinGen.Created: 20 May 2020, 11:06 a.m. | Last Modified: 20 May 2020, 11:06 a.m.
Panel Version: 0.10
Elena Savva (Victorian Clinical Genetics Services)
All reported variants in this gene have conflicting evidence and are prevalent in the population.
While a single example of incomplete penetrance in a large family has been reported (PMID: 17967977), the pathogenicity of this particular variant is questionable.
Likely loss of function - transfected HEK293 cells significantly reduced sodium current density and enzymatic activity, causing SCN5A protein mislocalization (PMID: 17967977, PMID: 19666841).Created: 20 May 2020, 3:45 a.m. | Last Modified: 20 May 2020, 3:45 a.m.
Panel Version: 0.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Brugada syndrome 2 611777
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Brugada syndrome 2, MIM# 611777
- Tags
- OMIM
- 611778
- Clinvar variants
- Variants in GPD1L
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GPD1L were set to 17967977; 19666841
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gpd1l has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gpd1l has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GPD1L were changed from to Brugada syndrome 2, MIM# 611777
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GPD1L were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GPD1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag disputed tag was added to gene: GPD1L.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gpd1l has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GPD1L was added gene: GPD1L was added to Brugada syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GPD1L was set to Unknown