Congenital myopathy
Gene: LMNAEnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.Created: 3 Aug 2022, 3:25 p.m. | Last Modified: 3 Aug 2022, 3:25 p.m.
Panel Version: 2.89
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 11:44 a.m. | Last Modified: 9 Mar 2022, 11:44 a.m.
Panel Version: 2.72
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient cases for inclusion.Created: 7 Mar 2017, 2:55 p.m.
Comment on list classification: Sufficient cases (2/80 with congenital fibre type disproportion and 4/23 with muscular dystrophy presentation) had heterozygous mutations.Created: 7 Mar 2017, 2:54 p.m.
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital fiber type disproportion myopathy
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Congenital fiber type disproportion myopathy
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Progressive cardiac conduction disease
- Multi-organ autoimmune diabetes
- Lipodystrophy - childhood onset
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Skeletal dysplasia
- Proteinuric renal disease
- Arrhythmogenic right ventricular cardiomyopathy
- Congenital muscular dystrophy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Intellectual disability
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Fetal anomalies
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Clefting
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Familial diabetes
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene LMNA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Removed Source, Added New Source, Set Phenotypes
Louise Daugherty (Genomics England Curator)Source UCL was removed from LMNA. Source NHS GMS was added to LMNA. Phenotypes for gene: LMNA were changed from Congenital fiber type disproportion myopathy to Congenital fiber type disproportion myopathy
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).
Added New Source
Anna Sarkozy (Great Ormond Street Hospital)LMNA was added to Congenital myopathypanel. Sources: UCL
Created
Anna Sarkozy (Great Ormond Street Hospital)LMNA was created by anna.sarkozy