PanelApp (staging)
  1. Genes and Genomic Entities
  2. MYPN

MYPN

myopalladin
OMIM: 608517, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red MYPN in Hypertrophic cardiomyopathy_HCM


Level 2: Cardiovascular disorders
Version 1.0

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Cardiomyopathy, hypertrophic, 22 (MIM# 615248)

    Green MYPN in Mendeliome


    Version 1.2302

    		1 review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nemaline myopathy 11, autosomal recessive MIM#617336 AR
    • cardiomyopathy MIM#615248 AD

    Green MYPN in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.85

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Expert Review Green
    • Expert list
    Phenotypes
    • Nemaline Myopathy (MIM#617336
    • MONDO:0018958)

    Amber MYPN in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • South West GLH
    • NHS GMS
    Phenotypes
    • Congenital myopathy 24, MIM# 617336
    • Cardiomyopathy, dilated, 1KK, MIM# 615248
    • Cardiomyopathy, hypertrophic, 22, MIM# 615248

    Red MYPN in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

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

    Red MYPN in Fetal anomalies


    Version 1.313

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Nemaline myopathy 11, autosomal recessive, MIM# 617336

    Red MYPN in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

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