Dilated Cardiomyopathy and conduction defects
Gene: LDB3Comment on list classification: Demoted from Green to Amber. This gene is associated with a phenotype in OMIM and Gene2Phenotype (requires clinical review). However, based on the expert reviews there is not enough evidence to support a gene-disease association. Therefore this gene has been given an Amber rating.Created: 15 Mar 2022, 8:42 a.m. | Last Modified: 15 Mar 2022, 8:42 a.m.
Panel Version: 1.77
Comment on publications: Added new publicationsCreated: 15 Mar 2022, 8:36 a.m. | Last Modified: 15 Mar 2022, 8:36 a.m.
Panel Version: 1.76
Some missense variants reported in humans (but gene is not constrained for missense varation), and some experimental evidence for gene-disease association. Very limited segregation with an LVNC/DCMphenotype for c.2032G>A (PMID: 14660611), but this is common enough in controls to be unlikely causative of monogenic disease, even with reduced penetrance. ClinGen rates as limited evidence for DCM. This gene should be amber at best for a DCM panelCreated: 14 Mar 2022, 10:53 a.m. | Last Modified: 14 Mar 2022, 10:53 a.m.
Panel Version: 1.75
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, dilated, 1C, with or without LVNC (OMIM #601493)
Publications
Cardiomyopathy, dilated, 1C, with or without LVNC OMIM#601493; Cardiomyopathy, hypertrophic, 24 OMIM#601493; Left ventricular noncompaction 3 OMIM#601493; Myopathy, myofibrillar, 4 OMIM#609452.Created: 25 Mar 2019, 4:30 p.m.
HGMD: Four variants assoc with DCM - only one DM. Haas 2015 lists 2 as VUS. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Comment when marking as ready: Lots of unrelated patients in OMIM; on DDG2P linked to DCMCreated: 14 Feb 2016, 4:18 p.m.
Gene: ldb3 has been classified as Amber List (Moderate Evidence).
Publications for gene: LDB3 were set to
Source South West GLH was added to LDB3. Mode of inheritance for gene LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to LDB3. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene LDB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
LDB3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Model of inheritance for gene LDB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
LDB3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Model of inheritance for gene LDB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
LDB3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
LDB3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list