Hereditary neuropathy
Gene: LRSAM1EnsemblGeneIds (GRCh38): ENSG00000148356
EnsemblGeneIds (GRCh37): ENSG00000148356
OMIM: 610933, Gene2Phenotype
LRSAM1 is in 2 panels
7 reviews
Natalie Forrester (SWGLH - Bristol Genetics)
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
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)
Variants in this GENE are reported as part of current diagnostic practice
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mary Reilly (Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
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, 1:07 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.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Charcot Marie Toothe disease, axonal, type 2P, 614436
- Charcot Marie Toothe disease, axonal, type 2P, 614436
- OMIM
- 610933
- Clinvar variants
- Variants in LRSAM1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Charcot Marie Toothe disease, axonal, type 2P, 614436 for gene: LRSAM1 Publications for gene LRSAM1 were changed from to 22781092; 28335037
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to LRSAM1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to LRSAM1.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to LRSAM1. 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)Mode of inheritance for LRSAM1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LRSAM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LRSAM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LRSAM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LRSAM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LRSAM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)LRSAM1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LRSAM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)LRSAM1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LRSAM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)LRSAM1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)LRSAM1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory