Dilated and arrhythmogenic cardiomyopathy
Gene: LDB3
LDB3 (LIM domain binding 3)
EnsemblGeneIds (GRCh38): ENSG00000122367
EnsemblGeneIds (GRCh37): ENSG00000122367
OMIM: 605906, Gene2Phenotype
LDB3 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000122367
EnsemblGeneIds (GRCh37): ENSG00000122367
OMIM: 605906, Gene2Phenotype
LDB3 is in 14 panels
1 review
Ivone Leong (Genomics England Curator)
New gene submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- NHS GMS
- OMIM
- 605906
- Clinvar variants
- Variants in LDB3
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Fetal anomalies
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Distal myopathies
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
3 Dec 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: LDB3 was added gene: LDB3 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown