PLD1

phospholipase D1
OMIM: 602382, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PLD1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cardiac valvular defect, developmental, MIM# 212093
  • neonatal cardiomyopathy
Tags
  • founder

Green PLD1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiac valvular defect, developmental, MIM# 212093
  • neonatal cardiomyopathy
Tags
  • founder

Green PLD1 in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 0.192

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiac valvular defect, developmental, MIM# 212093
  • neonatal cardiomyopathy
Tags
  • founder

Green PLD1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Cardiac valvular defect, developmental, OMIM:212093