LRSAM1

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green LRSAM1 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436
  • MONDO:0013753

Green LRSAM1 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.48

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436
    • MONDO:0013753
    • HMSN

    Green LRSAM1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)

    Green LRSAM1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Charcot-Marie-Tooth disease

    Green LRSAM1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)

    Red LRSAM1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436