1. Genes and Genomic Entities
  2. PLD1

PLD1

phospholipase D1
OMIM: 602382, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PLD1 in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Cardiac valvular defect, developmental, OMIM:212093
  • Cardiomyopathy
  • Congenital heart malformations
Tags
  • Q2_24_demote_red
  • Q2_24_expert_review
Green PLD1 in Paediatric disorders - additional genes


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiac valvular defect, developmental, OMIM:212093
    Tags
    • Q2_24_demote_red
    • Q2_24_expert_review
    Green PLD1 in Paediatric or syndromic cardiomyopathy


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cardiac valvular defect, developmental, OMIM:212093
    • neonatal cardiomyopathy
    Tags
    • Q2_24_demote_red
    • Q2_24_expert_review
    • Q2_24_NHS_review