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
-
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- Skeletal dysplasia
- Osteogenesis imperfecta
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Proteinuric renal disease
- DDG2P
- Hypertrophic cardiomyopathy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Congenital myopathy
- Progressive cardiac conduction disease
- Intellectual disability
- Severe insulin resistance and lipodystrophy syndromes
- Hereditary neuropathy
- Familial diabetes
- Arrhythmogenic right ventricular cardiomyopathy
- Multi-organ autoimmune diabetes
- Dilated and arrhythmogenic cardiomyopathy
- Pigmentary skin disorders
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Congenital muscular dystrophy
- Clefting
- Paediatric or syndromic cardiomyopathy
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