Arthrogryposis
Gene: LDB3EnsemblGeneIds (GRCh38): ENSG00000122367
EnsemblGeneIds (GRCh37): ENSG00000122367
OMIM: 605906, Gene2Phenotype
LDB3 is in 14 panels
1 review
Alice Gardham (Genomics England)
No known association with arthrogryposisCreated: 4 Jan 2017, 1:17 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, myofibrillar, 4 609452
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
- Expert list
- Phenotypes
-
- Myofibrillar Myopathy, Dominant
- Myopathy, myofibrillar, 4, 609452
- OMIM
- 605906
- Clinvar variants
- Variants in LDB3
- Penetrance
- Complete
- Panels with this gene
-
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Distal myopathies
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)LDB3 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services LDB3 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)LDB3 was added to Arthrogryposispanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)LDB3 was created by ellenmcdonagh