1. Genes and Genomic Entities
  2. PLD1

PLD1

phospholipase D1
OMIM: 602382, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber PLD1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Literature
Phenotypes
  • Cardiac valvular dysplasia 1, OMIM:212093
  • Congenital heart malformations
Tags
  • Q3_25_promote_green
  • Q3_25_expert_review
Green PLD1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MONDO:0008913
    • OMIM:212093.0
    • PLD1-related cardiac valvular dysplasia
    Amber PLD1 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.31
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiac valvular dysplasia 1, OMIM:212093
    Tags
    • Q3_25_promote_green
    • Q3_25_expert_review
    Amber PLD1 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.96
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Cardiac valvular dysplasia 1, OMIM:212093
    • cardiac valvular defect, developmental, MONDO:0008913
    • neonatal cardiomyopathy