Arthrogryposis
Gene: LMOD3

LMOD3 (leiomodin 3)
EnsemblGeneIds (GRCh38): ENSG00000163380
EnsemblGeneIds (GRCh37): ENSG00000163380
OMIM: 616112, Gene2Phenotype
LMOD3 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterised by early-onset generalised muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Severity is highly variable. Over 20 families reported.

Antenatal presentation with arthrogryposis reported PMID 29331079.
Created: 16 Oct 2020, 7:11 a.m. | Last Modified: 16 Oct 2020, 7:11 a.m.

Panel Version: 0.228

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 10, MIM# 616165

Publications

Created: 16 Oct 2020, 7:11 a.m.
Last Modified: 16 Oct 2020, 7:11 a.m.
Panel version: 0.228

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Nemaline myopathy 10, MIM# 616165

OMIM

616112

Clinvar variants

Variants in LMOD3

Penetrance

None

Publications

Panels with this gene