Sudden cardiac death - previous panel
Gene: LMNAEnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
James Eden (Manchester)
Gene currently tested on Manchester cardiac gene panel. 574 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: association with dilated cardiomyopathy 1A, definitive association with Emery-Dreifuss muscular dystrophy 2, autosomal dominant (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, dilated, 1A (115200); Charcot-Marie-Tooth disease, type 2B1 (605588); Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350); Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516); Heart-hand syndrome, Slovenian type (610140); Hutchinson-Gilford progeria (176670); Lipodystrophy, familial partial, type 2 (151660); Malouf syndrome (212112); Mandibuloacral dysplasia (248370); Muscular dystrophy, congenital (613205); Restrictive dermopathy, lethal (275210)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London South GLH
- North West GLH
- Expert Review Green
- London South GLH
- North West GLH
- Expert Review Green
- Phenotypes
-
- Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic
- Hutchinson-Gilford progeria (176670)
- Heart-hand syndrome, Slovenian type (610140)
- Muscular dystrophy, congenital (613205)
- Charcot-Marie-Tooth disease, type 2B1 (605588)
- Restrictive dermopathy, lethal (275210)
- Congenital Muscular Dystrophy, LMNA-related (Dominant)
- Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516)
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350)
- Cardiomyopathy, dilated, 1A (115200)
- Cardiomyopathy, dilated, 1A
- Lipodystrophy, familial partial, type 2 (151660)
- Emery-Dreifuss muscular dystrophy 2, AD, 181350
- Mandibuloacral dysplasia (248370)
- Malouf syndrome (212112)
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Clefting
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Left Ventricular Noncompaction Cardiomyopathy
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Skeletal dysplasia
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Osteogenesis imperfecta
- Progressive cardiac conduction disease
- Monogenic diabetes
- Pigmentary skin disorders
- Hereditary neuropathy or pain disorder
- Familial diabetes
- Proteinuric renal disease
- Multi-organ autoimmune diabetes
- Lipodystrophy - childhood onset
- Congenital myopathy
- Hypertrophic cardiomyopathy
- DDG2P
- Hereditary neuropathy
- Arrhythmogenic right ventricular cardiomyopathy
- Congenital muscular dystrophy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: LMNA was added gene: LMNA was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMNA were set to 27532257; 20186049 Phenotypes for gene: LMNA were set to Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic; Hutchinson-Gilford progeria (176670); Heart-hand syndrome, Slovenian type (610140); Muscular dystrophy, congenital (613205); Charcot-Marie-Tooth disease, type 2B1 (605588); Restrictive dermopathy, lethal (275210); Congenital Muscular Dystrophy, LMNA-related (Dominant); Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516); Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350); Cardiomyopathy, dilated, 1A (115200); Cardiomyopathy, dilated, 1A; Lipodystrophy, familial partial, type 2 (151660); Emery-Dreifuss muscular dystrophy 2, AD, 181350; Mandibuloacral dysplasia (248370); Malouf syndrome (212112)