BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: LDB3

LDB3 (LIM domain binding 3)
EnsemblGeneIds (GRCh38): ENSG00000122367
EnsemblGeneIds (GRCh37): ENSG00000122367
OMIM: 605906, Gene2Phenotype
LDB3 is in 14 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; neuro_20160418_strict; All missense/in frame
Created: 7 Feb 2017, 4:33 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myopathy, myofibrillar, 4, 609452; Cardiomyopathy, dilated 1C, 601493; Left ventricular noncompaction 3, with or without dilated cardiomyopathy, 601493;

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 4:33 p.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

BRIDGE

Phenotypes

Myopathy, myofibrillar, 4, 609452
Cardiomyopathy, dilated 1C, 601493
Left ventricular noncompaction 3, with or without dilated cardiomyopathy, 601493

OMIM

605906

Clinvar variants

Variants in LDB3

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LDB3 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source