Hereditary neuropathy
Gene: LRSAM1
Bristol have identified approx 3 likely pathogenic variants. PMID: 22781092 - identified spliace site mutation segregating in large 3 generation family with axonal CMT. PMID: 28335037 - functionally characterised missense change and demonstrated that in vitro ubiquitylation activity was largely abrogatedCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot Marie Toothe disease, axonal, type 2P, 614436
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
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
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, 1:07 p.m.
Comment on mode of inheritance: Changed to both, as homozygosity mapping reported in OMIM, as well as heterozygous cases.Created: 3 May 2016, 4:24 p.m.
Added phenotypes Charcot Marie Toothe disease, axonal, type 2P, 614436 for gene: LRSAM1 Publications for gene LRSAM1 were changed from to 22781092; 28335037
Source South West GLH was added to LRSAM1.
Source NHS GMS was added to LRSAM1.
Source London North GLH was added to LRSAM1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for LRSAM1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene LRSAM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene LRSAM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene LRSAM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene LRSAM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene LRSAM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
LRSAM1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene LRSAM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
LRSAM1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene LRSAM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
LRSAM1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
LRSAM1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory