Congenital myopathy

Gene: LMOD3

Green List (high evidence)

LMOD3 (leiomodin 3)
EnsemblGeneIds (GRCh38): ENSG00000163380
EnsemblGeneIds (GRCh37): ENSG00000163380
OMIM: 616112, Gene2Phenotype
LMOD3 is in 5 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.

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

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 10 616165

Publications

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

Details

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

History Filter Activity

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to LMOD3.

30 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to LMOD3. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

16 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

16 Feb 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

LMOD3 was added to Congenital myopathypanel. Sources: Literature

16 Feb 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

LMOD3 was created by helen.brittain