NEBL

nebulette
OMIM: 605491, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber NEBL in Dilated Cardiomyopathy


Level 2: Cardiovascular disorders
Version 1.33

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Hypertrophic cardiomyopathy
    • dilated cardiomyopathy

    Amber NEBL 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, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Hypertrophic cardiomyopathy
    • dilated cardiomyopathy

    Amber NEBL in Mendeliome


    Version 1.1891

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypertrophic cardiomyopathy
    • dilated cardiomyopathy

    Red NEBL in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • Expert Review Red
    • NHS GMS

    Red NEBL 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 NEBL in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

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