1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. LMOD3
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

Gene: LMOD3

Green List (high evidence)
LMOD3 (leiomodin 3)
EnsemblGeneIds (GRCh38): ENSG00000163380
EnsemblGeneIds (GRCh37): ENSG00000163380
OMIM: 616112, Gene2Phenotype
LMOD3 is in 4 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.
Created: 30 Apr 2019, 10:09 a.m.

Copied from panel: Congenital myopathy v3.58

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 10 616165

Publications

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

Created: 30 Apr 2019, 10:05 a.m.

Copied from panel: Congenital myopathy v3.58

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 10 616165

Publications

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.58

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient evidence, severe nemaline myopathy phenotype
Created: 16 Feb 2017, 2:25 p.m.
21 patients from 14 families with biallelic mutations and severe congenital presentation.
Created: 16 Feb 2017, 2:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 10 616165

Publications

Created: 16 Feb 2017, 2:24 p.m.

Copied from panel: Congenital myopathy v3.58

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Nemaline myopathy 10, OMIM:616165
OMIM
616112
Clinvar variants
Variants in LMOD3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: LMOD3 was added gene: LMOD3 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Literature,Expert Review Green,London South GLH Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMOD3 were set to PMID 25250574 Phenotypes for gene: LMOD3 were set to Nemaline myopathy 10, OMIM:616165 Penetrance for gene: LMOD3 were set to Complete