Genomics England
GMS Panels
Panels
Genes and Entities

PLD1

phospholipase D1
OMIM: 602382
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiac valvular defect, developmental, OMIM:212093, Cardiomyopathy, Congenital heart malformations
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiac valvular defect, developmental, OMIM:212093
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiac valvular defect, developmental, OMIM:212093, neonatal cardiomyopathy