LDB3

LIM domain binding 3
OMIM: 605906, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Red LDB3 in Left Ventricular Noncompaction Cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Left ventricular noncompaction 3, with or without dilated cardiomyopathy

Green LDB3 in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.20
Signed off v.1.18 on 2 Mar 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Myopathy, myofibrillar 4, 609452

    Green LDB3 in Neuromuscular disorders


    Version 5.51
    Signed off v.5.43 on 4 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Myopathy, myofibrillar 4, 609452
    • Myofibrillar Myopathy, Dominant

    Red LDB3 in Hypertrophic cardiomyopathy - teen and adult

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    Component of the following Super Panels:

  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • London South GLH
    • Expert list

    Red LDB3 in Arrhythmogenic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.6
    Signed off v.2.4 on 19 Feb 2020

    Component of the following Super Panels:

  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • Expert Review Red
    • Expert list

    Green LDB3 in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.65

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • London South GLH
    • Expert Review Green
    • Expert list
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Cardiomyopathy, dilated 1C

    Red LDB3 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.11
    Signed off v.3.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Myofibrillar Myopathy, Dominant
    • Myopathy, myofibrillar, 4, 609452

    Red LDB3 in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.5
    Signed off v.2.2 on 2 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Myofibrillar Myopathy, Dominant
    • Myopathy, myofibrillar, 4, 609452

    Amber LDB3 in Dilated cardiomyopathy - adult and teen

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.3
    Signed off v.1.2 on 19 Feb 2020

    Component of the following Super Panels:

  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS

    Red LDB3 in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • CARDIOMYOPATHY DILATED TYPE 1C
    • MYOPATHY MYOFIBRILLAR TYPE 4
    • LEFT VENTRICULAR NON-COMPACTION TYPE 3

    Green LDB3 in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • LEFT VENTRICULAR NON-COMPACTION TYPE 3 601493
    • CARDIOMYOPATHY DILATED TYPE 1C 601493
    • MYOPATHY MYOFIBRILLAR TYPE 4 609452

    Red LDB3 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.370

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy

    Amber LDB3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.160
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Myopathy, myofibrillar, 4, 609452
    • Cardiomyopathy, dilated 1C, 601493
    • Left ventricular noncompaction 3, with or without dilated cardiomyopathy, 601493

    Amber LDB3 in Cardiomyopathies - including childhood onset


    Version 1.5
    Signed off v.1.4 on 19 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • South West GLH
    Phenotypes
    • Left ventricular noncompaction 3, with or without dilated cardiomyopathy
    • Cardiomyopathy, dilated 1C

    Red LDB3 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.5
    Signed off v.1.2 on 27 Feb 2020

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy

    Green LDB3 in Severe Paediatric Disorders


    Version 1.6

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myopathy, myofibrillar, 4, 609452
    • Left ventricular noncompaction 3, 601493
    • Cardiomyopathy, dilated, 1C, with or without LVNC, 601493
    • Cardiomyopathy, hypertrophic, 24, 601493