PanelApp (staging)
  1. Genes and Genomic Entities
  2. LDB3

LDB3

LIM domain binding 3
OMIM: 605906, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber LDB3 in Dilated Cardiomyopathy


Level 2: Cardiovascular disorders
Version 1.37

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493

    Green LDB3 in Mendeliome


    Version 1.2302

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493
    • Cardiomyopathy, hypertrophic, 24 MIM#601493
    • Left ventricular noncompaction 3 MIM#601493
    • Myopathy, myofibrillar, 4 MIM#609452

    Green LDB3 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.42

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • myofibrillar myopathy 4 MONDO:0012277

    Green LDB3 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • South West GLH
    • NHS GMS
    Phenotypes
    • Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493

    Red LDB3 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
    • Myofibrillar myopathy

    Red LDB3 in Fetal anomalies


    Version 1.313

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493
    • Cardiomyopathy, hypertrophic, 24 MIM#601493
    • Left ventricular noncompaction 3 MIM#601493
    • Myopathy, myofibrillar, 4 MIM#609452

    Red LDB3 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
    • Myofibrillar myopathy