Cardiomyopathy_Paediatric
Gene: LDB3EnsemblGeneIds (GRCh38): ENSG00000122367
EnsemblGeneIds (GRCh37): ENSG00000122367
OMIM: 605906, Gene2Phenotype
LDB3 is in 7 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493
Suliman Khan (Victorian Clinical Genetics Services)
PMID: 36253531 reported 5 unrelated families with cardiomyopathy. Next-generation sequencing analysis revealed biallelic loss-of-function variants in the LDB3 gene. The authors reported that recessive loss-of-function LDB3 variants can lead to an early-onset and more severe phenotype of cardiomyopathy and myopathy.Created: 21 Oct 2022, 5:37 a.m. | Last Modified: 21 Oct 2022, 5:37 a.m.
Panel Version: 0.134
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
pediatric dilated cardiomyopathy
Publications
- PMID: 36253531
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- South West GLH
- NHS GMS
- Phenotypes
-
- Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493
- OMIM
- 605906
- Clinvar variants
- Variants in LDB3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ldb3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LDB3 were changed from Left ventricular noncompaction 3, with or without dilated cardiomyopathy; Cardiomyopathy, dilated 1C to Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: LDB3 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ldb3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LDB3 was added gene: LDB3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Amber Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LDB3 were set to Left ventricular noncompaction 3, with or without dilated cardiomyopathy; Cardiomyopathy, dilated 1C