Congenital myopathy
Gene: LMOD3EnsemblGeneIds (GRCh38): ENSG00000163380
EnsemblGeneIds (GRCh37): ENSG00000163380
OMIM: 616112, Gene2Phenotype
LMOD3 is in 4 panels
4 reviews
Louise Daugherty (Genomics England Curator)
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)
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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 10 616165
Publications
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient evidence, severe nemaline myopathy phenotypeCreated: 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
- PMID 25250574
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London South GLH
- Expert Review Green
- Literature
- Phenotypes
-
- Nemaline myopathy 10, OMIM:616165
- OMIM
- 616112
- Clinvar variants
- Variants in LMOD3
- Penetrance
- Complete
- Publications
-
- PMID 25250574
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: LMOD3 were updated from PMID 25250574 to PMID 25250574
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: LMOD3 were changed from Nemaline myopathy 10 616165 to Nemaline myopathy 10, OMIM:616165
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to LMOD3.
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)
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.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Helen Brittain (Genomics England Curator)LMOD3 was added to Congenital myopathypanel. Sources: Literature
Created
Helen Brittain (Genomics England Curator)LMOD3 was created by helen.brittain