Congenital muscular dystrophy and congenital myopathy
Gene: LDB3EnsemblGeneIds (GRCh38): ENSG00000122367
EnsemblGeneIds (GRCh37): ENSG00000122367
OMIM: 605906, Gene2Phenotype
LDB3 is in 14 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myofibrillar Myopathy, Dominant; Myopathy, myofibrillar, 4, 609452
Publications
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Adult phenotypeCreated: 3 Feb 2017, 10:52 a.m.
Comment on list classification: Adult presentationCreated: 3 Feb 2017, 10:52 a.m.
Age of onset in reported cases 44 - 73 years therefore not considered appropriate for congenital myopathy panelCreated: 26 Jan 2017, 2:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, myofibrillar, 4 609452
Publications
- PMID 15668942
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Myopathy, myofibrillar, 4, OMIM:609452
- OMIM
- 605906
- Clinvar variants
- Variants in LDB3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Left Ventricular Noncompaction Cardiomyopathy
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Distal myopathies
- Arthrogryposis
- Arrhythmogenic right ventricular cardiomyopathy
- Dilated and arrhythmogenic cardiomyopathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: LDB3 was added gene: LDB3 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LDB3 were set to 15668942 Phenotypes for gene: LDB3 were set to Myopathy, myofibrillar, 4, OMIM:609452 Penetrance for gene: LDB3 were set to Complete