Cardiomyopathies - including childhood onsetGene: PLD1
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
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: 15 Apr 2021, 10:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy
Variants in this GENE are reported as part of current diagnostic practice
Gene: pld1 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: PLD1.
Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy to Cardiac valvular defect, developmental, OMIM:212093; neonatal cardiomyopathy
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