DDG2P
Gene: LMOD2

LMOD2 (leiomodin 2)
EnsemblGeneIds (GRCh38): ENSG00000170807
EnsemblGeneIds (GRCh37): ENSG00000170807
OMIM: 608006, Gene2Phenotype
LMOD2 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease LMOD2-related infantile dilated cardiomyopathy is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 35082396;37296576;31517052;34888509;35188328).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.

Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
LMOD2-related infantile dilated cardiomyopathy

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

LMOD2-related infantile dilated cardiomyopathy

OMIM

608006

Clinvar variants

Variants in LMOD2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: LMOD2 was added gene: LMOD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMOD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMOD2 were set to 35188328; 34888509; 35082396; 31517052; 37296576 Phenotypes for gene: LMOD2 were set to LMOD2-related infantile dilated cardiomyopathy

DDG2P Gene: LMOD2