DDG2P
Gene: LDB3

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for LDB3-related myopathy myofibrillar are limited, monoallelic_autosomal and undetermined (PMIDs: 15668942, 17337483). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00544.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.

Panel Version: 6.17

The DDG2P confidence category for the disease MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 5:08 p.m.

Panel Version: 3.23

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

Phenotypes
OMIM:609452.0; MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452; MONDO:0012277; LDB3-related myopathy myofibrillar

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 6 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CARDIOMYOPATHY DILATED TYPE 1C; LEFT VENTRICULAR NON-COMPACTION TYPE 3; MYOPATHY MYOFIBRILLAR TYPE 4.
Created: 8 Oct 2019, 3:24 p.m. | Last Modified: 8 Oct 2019, 3:24 p.m.

Panel Version: 1.131

Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
Created: 12 Jul 2019, 9:15 p.m. | Last Modified: 12 Jul 2019, 9:15 p.m.

Panel Version: 1.76

Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEFT VENTRICULAR NON-COMPACTION TYPE 3; CARDIOMYOPATHY DILATED TYPE 1C; MYOPATHY MYOFIBRILLAR TYPE 4.
Created: 29 Jan 2019, 12:14 p.m.

Original DDG2P rating: both DD and IF (for all listed disorders). DDG2P mode of pathogenicity in all disorders: all missense/in frame.
Created: 19 Nov 2018, 11:30 a.m.

Created: 19 Nov 2018, 11:30 a.m.

Panel version: 1.131

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
DD-Gene2Phenotype

Phenotypes

MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452

OMIM

605906

Clinvar variants

Variants in LDB3

Penetrance

None

Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: LDB3 was changed from Other to None

6 Oct 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: LDB3 were changed from MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452 to MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452

6 Oct 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: LDB3 were changed from LEFT VENTRICULAR NON-COMPACTION TYPE 3 601493; CARDIOMYOPATHY DILATED TYPE 1C 601493; MYOPATHY MYOFIBRILLAR TYPE 4 609452 to MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452

4 Oct 2023, Gel status: 1

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Red was added to LDB3. Mode of pathogenicity for gene LDB3 was changed from Other - please provide details in the comments to Other Rating Changed from Green List (high evidence) to Red List (low evidence)

12 Jul 2019, Gel status: 3