LYST

lysosomal trafficking regulator
OMIM: 606897, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green LYST in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.3

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Chediak-Higashi syndrome MONDO:0008963

    Green LYST in Ocular and Oculocutaneous Albinism


    Level 2: Ophthalmological disorders
    Version 1.11

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Chediak-Higashi syndrome, MIM# 214500

    Green LYST in Bleeding and Platelet Disorders


    Level 2: Haematological disorders
    Version 1.43

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chediak-Higashi syndrome, MIM# 214500
    Tags
    • treatable

    Green LYST in Mendeliome


    Version 1.1902

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Chediak-Higashi syndrome, MIM# 214500
    Tags
    • treatable

    Amber LYST in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Chediak-Higashi syndrome, MIM#214500

    Green LYST in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 0.186

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Tags
    • treatable

    Amber LYST in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Chediak-Higashi syndrome, MIM#214500

    Amber LYST in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.11

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • spastic paraplegia
    • Spastic paraplegia
    • Chediak-Higashi syndrome, 214500

    Green LYST in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.14

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Chediak-Higashi syndrome MIM#214500
    • MONDO:0008963

    Green LYST 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
    • Chediak-Higashi syndrome, 214500 (3)

    Green LYST in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Chediak-Higashi syndrome

    Green LYST in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.21

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • NHS Genomic Medicine Service
    • Victorian Clinical Genetics Services
    Phenotypes
    • Chediak-Higashi syndrome, MIM# 214500

    Red LYST in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Chediak-Higashi syndrome, MIM#214500

    Green LYST in IBMDx study


    Version 0.25

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chediak-Higashi syndrome (CHS)

    Green LYST in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Chediak-Higashi syndrome, 214500 (3)

    Green LYST in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Chediak-Higashi syndrome, MIM#214500
    Tags
    • treatable
    • immunological

    Green LYST in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Chediak-Higashi syndrome, MIM# 214500

    Green LYST in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Chediak-Higashi syndrome, 214500 (3)