Hypertrophic 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
2 reviews
Rebecca Whittington (South West GLH)
Cardiomyopathy, dilated, 1A (115200) and othersCreated: 25 Mar 2019, 4:30 p.m.
1 report on HGMD associated with HCM, other cardiomyopathy phenotypes describedCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Suggest removal from HCM panelCreated: 6 Jan 2016, 5:11 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- Complete
- Panels with this gene
-
- Arrhythmogenic right ventricular cardiomyopathy
- Left Ventricular Noncompaction Cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Clefting
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Hypertrophic cardiomyopathy
- Skeletal dysplasia
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Progressive cardiac conduction disease
- Arthrogryposis
- Severe insulin resistance and lipodystrophy syndromes
- Proteinuric renal disease
- Hereditary neuropathy
- Familial diabetes
- Congenital myopathy
- Multi-organ autoimmune diabetes
- Hereditary neuropathy or pain disorder
- DDG2P
- Dilated and arrhythmogenic cardiomyopathy
- Congenital muscular dystrophy
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to LMNA. Mode of inheritance for gene LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
13 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list
13 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Hypertrophic Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services