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 1.454

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 1.103
Latest signed off version: v1.36 (5 Aug 2021)

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 1.127

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