Hereditary neuropathy or pain disorder
Gene: LMNAEnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels
8 reviews
Natalie Forrester (SWGLH - Bristol Genetics)
Complex gene with multiple overlapping phenotypes which might not necessarily be pure neuropathy. PMID: 11799477 - reported that Lmna null mice presented with an axonal clinical and pathologic phenotype that is highly similar to patients with autosomal recessive CMT2Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Emery Dreifuss muscular dystrophy 2, AD, 181350; Cardiomyopathy, dilated, 1A, 115200; Charcot Marie Tooth disease, type 2B1, 605588; Emery Dreifuss muscular dystrophy 3, AR, 181350; Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112; Lipodystrophy, familial partial, 2, 151660; Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670; Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Variants in this GENE are reported as part of current diagnostic practice
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mary Reilly (Institute of Neurology)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Thalia Antoniadi (West Midlands Regional Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Is on the Charcot-Marie- Tooth disease type 2 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 1:06 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- South West GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- London North GLH
- Illumina TruGenome Clinical Sequencing Services
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
- Phenotypes
-
- Emery Dreifuss muscular dystrophy 3, AR, 181350
- Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001
- Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112
- Cardiomyopathy, dilated, 1A, 115200
- Lipodystrophy, familial partial, 2, 151660
- Emery Dreifuss muscular dystrophy 2, AD, 181350
- Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670
- Charcot Marie Tooth disease, type 2B1, 605588
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Arrhythmogenic right ventricular cardiomyopathy
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Monogenic diabetes
- Hereditary neuropathy or pain disorder
- Skeletal dysplasia
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Clefting
- Dilated Cardiomyopathy and conduction defects
- Pigmentary skin disorders
- Intellectual disability
- Fetal anomalies
- Familial diabetes
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Osteogenesis imperfecta
- Progressive cardiac conduction disease
- Proteinuric renal disease
- Multi-organ autoimmune diabetes
- Lipodystrophy - childhood onset
- Congenital myopathy
- Arthrogryposis
- Hypertrophic cardiomyopathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: LMNA was added gene: LMNA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMNA were set to 11799477 Phenotypes for gene: LMNA were set to Emery Dreifuss muscular dystrophy 3, AR, 181350; Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112; Cardiomyopathy, dilated, 1A, 115200; Lipodystrophy, familial partial, 2, 151660; Emery Dreifuss muscular dystrophy 2, AD, 181350; Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670; Charcot Marie Tooth disease, type 2B1, 605588