Distal myopathies
Gene: LDB3EnsemblGeneIds (GRCh38): ENSG00000122367
EnsemblGeneIds (GRCh37): ENSG00000122367
OMIM: 605906, Gene2Phenotype
LDB3 is in 14 panels
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: mutations in this gene cause a distal myopathy phenotypeCreated: 20 Feb 2017, 4:34 p.m.
Comment when marking as ready: mutations in this gene cause a distal myopathy phenotypeCreated: 20 Feb 2017, 4:34 p.m.
Also allelic with cardiomyopathy 601493Created: 1 Feb 2017, 9:47 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, myofibrillar 4, 609452
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Myopathy, myofibrillar 4, 609452
- OMIM
- 605906
- Clinvar variants
- Variants in LDB3
- Penetrance
- Complete
- Publications
- 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
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Arianna Tucci (Genomics England Curator)Phenotypes for LDB3 were set to Myopathy, myofibrillar 4, 609452
Set publications
Arianna Tucci (Genomics England Curator)Publications for LDB3 were set to 15668942
Set Mode of Inheritance
Arianna Tucci (Genomics England Curator)Mode of inheritance for LDB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)LDB3 was added to Distal myopathiespanel. Sources: Eligibility statement prior genetic testing