LRSAM1

leucine rich repeat and sterile alpha motif containing 1
OMIM: 610933, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green LRSAM1 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.383

review 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

Green LRSAM1 in Hereditary neuropathy NOT PMP22 copy number


Version 1.21
Signed off v.1.2 on 27 Feb 2020

review 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

Green LRSAM1 in Severe Paediatric Disorders


Version 1.43

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2P, 614436