Genes in panel
STRs in panel
Prev Next

Cardiomyopathies - including childhood onset

Gene: PLD1

Amber List (moderate evidence)

PLD1 (phospholipase D1)
EnsemblGeneIds (GRCh38): ENSG00000075651
EnsemblGeneIds (GRCh37): ENSG00000075651
OMIM: 602382, Gene2Phenotype
PLD1 is in 3 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 16 Apr 2021, 8:39 a.m. | Last Modified: 16 Apr 2021, 8:39 a.m.
Panel Version: 1.28

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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%).
Sources: Literature
Created: 15 Apr 2021, 10:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Cardiac valvular defect, developmental, OMIM:212093
  • neonatal cardiomyopathy
Tags
Q2_21_rating
OMIM
602382
Clinvar variants
Variants in PLD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pld1 has been classified as Amber List (Moderate Evidence).

16 Apr 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: PLD1.

16 Apr 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy to Cardiac valvular defect, developmental, OMIM:212093; neonatal cardiomyopathy

15 Apr 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PLD1 was added gene: PLD1 was added to Cardiomyopathies - including childhood onset. Sources: Literature Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLD1 were set to 27799408; 33645542 Phenotypes for gene: PLD1 were set to Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy Review for gene: PLD1 was set to GREEN gene: PLD1 was marked as current diagnostic