Left Ventricular Noncompaction Cardiomyopathy
Gene: LMNA
LMNA (lamin A/C)
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels
1 review
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- Complete
- Panels with this gene
-
- Progressive cardiac conduction disease
- Paediatric or syndromic cardiomyopathy
- Hypertrophic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Left Ventricular Noncompaction Cardiomyopathy
- Fetal anomalies
- Skeletal dysplasia
- Proteinuric renal disease
- Congenital muscular dystrophy
- Arrhythmogenic right ventricular cardiomyopathy
- Primary ovarian insufficiency
- Osteogenesis imperfecta
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Severe insulin resistance and lipodystrophy syndromes
- Pigmentary skin disorders
- Dilated and arrhythmogenic cardiomyopathy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Clefting
- Hereditary neuropathy
- Familial diabetes
- DDG2P
- Congenital myopathy
- Arthrogryposis
- Multi-organ autoimmune diabetes
- Intellectual disability
History Filter Activity
11 Feb 2016, Gel status: 1
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
13 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Left ventricular non-compaction cardiomyopathypanel. Sources: Expert list