Hereditary neuropathy
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
-
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Expert list
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cardiomyopathy, dilated, 1A, 115200
- Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001
- Charcot Marie Tooth disease, type 2B1, 605588
- Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670
- Emery Dreifuss muscular dystrophy 2, AD, 181350
- Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670
- Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001
- Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112
- Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112
- Lipodystrophy, familial partial, 2, 151660
- Lipodystrophy, familial partial, 2, 151660
- Emery Dreifuss muscular dystrophy 3, AR, 181350
- Emery Dreifuss muscular dystrophy 3, AR, 181350
- Emery Dreifuss muscular dystrophy 2, AD, 181350
- Cardiomyopathy, dilated, 1A, 115200
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Left Ventricular Noncompaction Cardiomyopathy
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Clefting
- Dilated Cardiomyopathy and conduction defects
- Skeletal dysplasia
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Paediatric or syndromic cardiomyopathy
- Osteogenesis imperfecta
- Progressive cardiac conduction disease
- Monogenic diabetes
- Intellectual disability
- Pigmentary skin disorders
- Hereditary neuropathy or pain disorder
- Familial diabetes
- Proteinuric renal disease
- Multi-organ autoimmune diabetes
- Lipodystrophy - childhood onset
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Arrhythmogenic right ventricular cardiomyopathy
- Congenital muscular dystrophy
History Filter Activity
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Charcot Marie Tooth disease, type 2B1, 605588; Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670; Emery Dreifuss muscular dystrophy 2, AD, 181350; Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112; Lipodystrophy, familial partial, 2, 151660; Emery Dreifuss muscular dystrophy 3, AR, 181350; Cardiomyopathy, dilated, 1A, 115200 for gene: LMNA Publications for gene LMNA were changed from to 11799477
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to LMNA.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to LMNA.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to LMNA. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list