Hereditary neuropathy
Gene: LDB3EnsemblGeneIds (GRCh38): ENSG00000122367
EnsemblGeneIds (GRCh37): ENSG00000122367
OMIM: 605906, Gene2Phenotype
LDB3 is in 14 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy association - more myopathicCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Cardiomyopathy
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Not a CMT geneCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
Not a CMT geneCreated: 8 Dec 2015, 3:06 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- Phenotypes
-
- Cardiomyopathy
- OMIM
- 605906
- Clinvar variants
- Variants in LDB3
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Congenital myopathy
- Arthrogryposis
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Fetal anomalies
- Distal myopathies
- Arrhythmogenic right ventricular cardiomyopathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Cardiomyopathy for gene: LDB3
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to LDB3.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to LDB3.
Added New Source
Ellen McDonagh (Genomics England Curator)LDB3 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory