LDB3

Gene Symbol:
LDB3
HGNC:15710
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
10q23.2
Filters:

Strong classifications

myofibrillar myopathy 4
Submitted as: OMIM:609452
AD
03/22/2021
Evaluated
11/30/2023
Submitted
dilated cardiomyopathy
AR
03/21/2025
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

LDB3 was first reported in relation to autosomal recessive dilated cardiomyopathy in 2023 (Koopma... Read more

Moderate classifications

myofibrillar myopathy 4
Submitted as: OMIM:609452
AD
02/20/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

familial isolated dilated cardiomyopathy
Submitted as: Orphanet:154
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

myofibrillar myopathy 4
Submitted as: OMIM:609452
AD
08/03/2022
Evaluated
07/02/2025
Submitted
familial dilated cardiomyopathy
AR
03/25/2025
Evaluated
07/02/2025
Submitted
dilated cardiomyopathy
AD
03/21/2025
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

LDB3 was first reported in relation to autosomal dominant dilated cardiomyopathy in 2003 (Vatta e... Read more

Disputed Evidence classifications

arrhythmogenic right ventricular cardiomyopathy
AD
09/12/2019
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

The association of LDB3 with ARVC is disputed. A study (25041374) investigated a family affected... Read more

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