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Hereditary neuropathy NOT PMP22 copy number

Gene: LMNA

Green List (high evidence)

LMNA (lamin A/C)
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 29 panels

8 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

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 CMT2
Created: 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)

I don't know

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)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Mary Reilly (Institute of Neurology)

Green List (high evidence)

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)

Green List (high evidence)

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

History Filter Activity

5 Dec 2019, Gel status: 3

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