PanelApp
  1. Genes and Genomic Entities
  2. LRSAM1

LRSAM1

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green LRSAM1 in Mendeliome


Version 2.588

1 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 Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.157

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Charcot-Marie-Tooth disease axonal type 2P, MONDO:0013753

    Green LRSAM1 in Hereditary Neuropathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.101

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    • Expert Review Green
    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 1.0

    		1 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 1.1

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

    Amber LRSAM1 in Prepair 1000+


    Level 2: Screening
    Version 3.0

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

    Red LRSAM1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.7

    		1 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