Hereditary neuropathy
Gene: LMNA
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
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.
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
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
Source South West GLH was added to LMNA.
Source NHS GMS was added to LMNA.
Source London North GLH was added to LMNA. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
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
Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
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
Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
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
Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal
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
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