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Incidentalome

Gene: GPD1L

Red List (low evidence)
GPD1L (glycerol-3-phosphate dehydrogenase 1 like)
EnsemblGeneIds (GRCh38): ENSG00000152642
EnsemblGeneIds (GRCh37): ENSG00000152642
OMIM: 611778, Gene2Phenotype
GPD1L is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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). Rated as DISPUTED by ClinGen.
Created: 20 May 2020, 11:07 a.m. | Last Modified: 20 May 2020, 11:07 a.m.
Panel Version: 0.20

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brugada syndrome 2, MIM# 611777

Publications

Created: 20 May 2020, 11:07 a.m.
Last Modified: 20 May 2020, 11:07 a.m.
Panel version: 0.210

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
disputed cardiac
OMIM
611778
Clinvar variants
Variants in GPD1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2022, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag cardiac tag was added to gene: GPD1L.

1 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gpd1l has been classified as Red List (Low Evidence).

20 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gpd1l has been classified as Amber List (Moderate Evidence).

20 May 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GPD1L were changed from to Brugada syndrome 2, MIM# 611777

20 May 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GPD1L were set to

20 May 2020, Gel status: 2

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

20 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gpd1l has been classified as Amber List (Moderate Evidence).

20 May 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: GPD1L.

17 Nov 2019, Gel status: 3

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 Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GPD1L was set to Unknown