Congenital Heart Defect
Gene: PLD1EnsemblGeneIds (GRCh38): ENSG00000075651
EnsemblGeneIds (GRCh37): ENSG00000075651
OMIM: 602382, Gene2Phenotype
PLD1 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID 33645542: 31 individuals from 20 families reported, presenting predominantly with congenital cardiac valve defects and some with neonatal cardiomyopathy. p.I668F is a founder variant among Ashkenazi Jews (allele frequency of ~2%).Created: 8 Mar 2021, 3:52 a.m. | Last Modified: 8 Mar 2021, 3:52 a.m.
Panel Version: 0.88
Four individuals from two families reported.
Sources: Expert listCreated: 17 Jan 2020, 1:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiac valvular defect, developmental, MIM# 212093
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Cardiac valvular defect, developmental, MIM# 212093
- neonatal cardiomyopathy
- Tags
- OMIM
- 602382
- Clinvar variants
- Variants in PLD1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag founder tag was added to gene: PLD1.
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, MIM# 212093 to Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PLD1 were set to 27799408
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pld1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pld1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pld1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PLD1 was added gene: PLD1 was added to Congenital Heart Defect. Sources: Expert list Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLD1 were set to 27799408 Phenotypes for gene: PLD1 were set to Cardiac valvular defect, developmental, MIM# 212093 Review for gene: PLD1 was set to AMBER