Congenital muscular dystrophy and 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
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant, OMIM:181350
- Emery-Dreifuss muscular dystrophy 3, autosomal recessive, OMIM:616516
- Muscular dystrophy, congenital, OMIM:613205
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Left Ventricular Noncompaction Cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Congenital myopathy
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Monogenic diabetes
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Severe insulin resistance and lipodystrophy syndromes
- Progressive cardiac conduction disease
- Proteinuric renal disease
- Paediatric or syndromic cardiomyopathy
- Hypertrophic cardiomyopathy
- Congenital muscular dystrophy
- Osteogenesis imperfecta
- Familial diabetes
- Pigmentary skin disorders
- Multi-organ autoimmune diabetes
- Intellectual disability
- Arrhythmogenic right ventricular cardiomyopathy
- Hereditary neuropathy
- Arthrogryposis
- Skeletal dysplasia
- Clefting
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: LMNA were changed from Congenital fiber type disproportion myopathy to Emery-Dreifuss muscular dystrophy 2, autosomal dominant, OMIM:181350; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, OMIM:616516; Muscular dystrophy, congenital, OMIM:613205
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: LMNA were set to 24642510
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: LMNA was added gene: LMNA was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LMNA were set to 24642510 Phenotypes for gene: LMNA were set to Congenital fiber type disproportion myopathy Penetrance for gene: LMNA were set to Complete