PLN

phospholamban
OMIM: 172405, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber PLN in Arrhythmogenic Cardiomyopathy


Level 2: Cardiovascular disorders
Version 0.76

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Arrhythmogenic right ventricular cardiomyopathy
    Tags
    • founder

    Green PLN in Dilated Cardiomyopathy


    Level 2: Cardiovascular disorders
    Version 1.55

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, dilated, 1P, MIM# 609909

    Green PLN in Hypertrophic cardiomyopathy


    Level 2: Cardiovascular disorders
    Version 1.22

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, hypertrophic, 18 (MIM #613874)

    Green PLN in Mendeliome


    Version 1.4216

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, dilated, 1P, MIM# 609909
    • Cardiomyopathy, hypertrophic, 18 (MIM #613874)

    Green PLN in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.217

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • South West GLH
    • NHS GMS
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 18,
    • Cardiomyopathy, dilated, 1P

    Red PLN in Additional findings_Paediatric


    Level 2: Screening
    Version 0.280

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    • BabySeq Category B gene
    Phenotypes
    • Cardiomyopathy, familial hypertrophic
    • Cardiomyopathy, dilated

    Red PLN in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.147

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • BabySeq Category B gene
    • Expert Review Red
    Phenotypes
    • Cardiomyopathy, familial hypertrophic
    • Cardiomyopathy, dilated

    Green PLN in Transplant Co-Morbidity


    Level 2: Screening
    Version 0.21

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, hypertrophic, 18 (MIM #613874)
    • Cardiomyopathy, dilated, 1P, MIM# 609909