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Hereditary neuropathy NOT PMP22 copy number

Gene: LRSAM1

Green List (high evidence)

LRSAM1 (leucine rich repeat and sterile alpha motif containing 1)
EnsemblGeneIds (GRCh38): ENSG00000148356
EnsemblGeneIds (GRCh37): ENSG00000148356
OMIM: 610933, Gene2Phenotype
LRSAM1 is in 3 panels

7 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

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 abrogated
Created: 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)

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)

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

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

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)

Green List (high evidence)

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
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • London North GLH
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Charcot Marie Toothe disease, axonal, type 2P, 614436
OMIM
610933
Clinvar variants
Variants in LRSAM1
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: LRSAM1 was added gene: LRSAM1 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,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: LRSAM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LRSAM1 were set to 22781092; 28335037 Phenotypes for gene: LRSAM1 were set to Charcot Marie Toothe disease, axonal, type 2P, 614436