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Research panel - Severe Paediatric Disorders

Gene: LDB3

Green List (high evidence)
LDB3 (LIM domain binding 3)
EnsemblGeneIds (GRCh38): ENSG00000122367
EnsemblGeneIds (GRCh37): ENSG00000122367
OMIM: 605906, Gene2Phenotype
LDB3 is in 14 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: LDB3; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3) | Cardiomyopathy, hypertrophic, 24, 601493 (3) | Left ventricular noncompaction 3, 601493 (3) | Myopathy, myofibrillar, 4, 609452 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:21 p.m.
Last Modified: 20 Feb 2020, 5:21 p.m.
Panel version: 0.12

Details

Mode of Inheritance
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
OMIM
605906
Clinvar variants
Variants in LDB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene LDB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene LDB3 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cardiomyopathy, hypertrophic, 24, 601493; Left ventricular noncompaction 3, 601493; Cardiomyopathy, dilated, 1C, with or without LVNC, 601493; Myopathy, myofibrillar, 4, 609452 for gene: LDB3

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cardiomyopathy, hypertrophic, 24, 601493; Left ventricular noncompaction 3, 601493; Cardiomyopathy, dilated, 1C, with or without LVNC, 601493; Myopathy, myofibrillar, 4, 609452 for gene: LDB3

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cardiomyopathy, hypertrophic, 24, 601493; Left ventricular noncompaction 3, 601493; Cardiomyopathy, dilated, 1C, with or without LVNC, 601493; Myopathy, myofibrillar, 4, 609452 for gene: LDB3

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Myopathy, myofibrillar, 4, 609452; Cardiomyopathy, hypertrophic, 24, 601493; Cardiomyopathy, dilated, 1C, with or without LVNC, 601493; Left ventricular noncompaction 3, 601493 for gene: LDB3

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to LDB3.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to LDB3. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: LDB3 was added gene: LDB3 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: LDB3 was set to