PDLIM3

PDZ and LIM domain 3
OMIM: 605889, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red PDLIM3 in Hypertrophic cardiomyopathy_HCM


Level 2: Cardiovascular disorders
Version 0.178

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Hypertrophic cardiomyopathy

    Red PDLIM3 in Mendeliome


    Version 1.1902

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Hypertrophic cardiomyopathy
    Tags
    • SV/CNV

    Red PDLIM3 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • South West GLH
    • NHS GMS
    Phenotypes
    • Hypertrophic cardiomyopathy

    Red PDLIM3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Cardiomyopathy, dilated

    Red PDLIM3 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Cardiomyopathy, dilated