Hypertrophic cardiomyopathy
Gene: LDB3EnsemblGeneIds (GRCh38): ENSG00000122367
EnsemblGeneIds (GRCh37): ENSG00000122367
OMIM: 605906, Gene2Phenotype
LDB3 is in 14 panels
3 reviews
Rebecca Whittington (South West GLH)
Cardiomyopathy, hypertrophic, 24 (601493)Created: 25 Mar 2019, 4:30 p.m.
1 report on HGMD associated with HCMCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- London South GLH
- Expert list
- OMIM
- 605906
- Clinvar variants
- Variants in LDB3
- Penetrance
- Complete
- 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
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to LDB3. Mode of inheritance for gene LDB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to LDB3.
Added New Source
Ellen McDonagh (Genomics England Curator)LDB3 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list