Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: LMNAEnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 8:24 a.m.
Ellen Thomas (Genomics England Curator)
Comment on mode of inheritance: Biallelic in Emery-Dreifuss MD, monoallelic in LGMDCreated: 27 May 2016, 3:38 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Limb-Girdle Muscular Dystrophy, Recessive
- Emery-Dreifuss muscular dystrophy 2, AD, 181350
- Limb-girdle muscular dystrophy
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- Complete
- Panels with this gene
-
- Clefting
- Arrhythmogenic right ventricular cardiomyopathy
- Hereditary neuropathy
- Fetal anomalies
- Arthrogryposis
- Congenital muscular dystrophy
- Proteinuric renal disease
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Skeletal dysplasia
- Left Ventricular Noncompaction Cardiomyopathy
- Congenital myopathy
- Intellectual disability
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- Monogenic diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Severe insulin resistance and lipodystrophy syndromes
- Progressive cardiac conduction disease
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Osteogenesis imperfecta
- Familial diabetes
- Multi-organ autoimmune diabetes
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for LMNA was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Limb girdle muscular dystrophypanel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Limb girdle muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Limb girdle muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Limb girdle muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Limb girdle muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen