Genomics England
GMS Panels
Panels
Genes and Entities

PLD1

phospholipase D1
OMIM: 602382
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MONDO:0008913, OMIM:212093.0, PLD1-related cardiac valvular dysplasia
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiac valvular dysplasia 1, OMIM:212093, Congenital heart malformations
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiac valvular dysplasia 1, OMIM:212093