DDG2P
Gene: PLD1

PLD1 (phospholipase D1)
EnsemblGeneIds (GRCh38): ENSG00000075651
EnsemblGeneIds (GRCh37): ENSG00000075651
OMIM: 602382, Gene2Phenotype
PLD1 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PLD1-related cardiac valvular dysplasia are definitive, biallelic_autosomal and loss of function (PMIDs: 27799408, 33645542, 37770978, 39553471, 39681445). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03704.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0008913; OMIM:212093.0; PLD1-related cardiac valvular dysplasia

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

MONDO:0008913
OMIM:212093.0
PLD1-related cardiac valvular dysplasia

OMIM

602382

Clinvar variants

Variants in PLD1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PLD1 was added gene: PLD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLD1 were set to 39553471; 27799408; 33645542; 39681445; 37770978 Phenotypes for gene: PLD1 were set to MONDO:0008913; OMIM:212093.0; PLD1-related cardiac valvular dysplasia

DDG2P Gene: PLD1