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  1. Genes and Genomic Entities
  2. HTRA2

HTRA2

HtrA serine peptidase 2
OMIM: 606441, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red HTRA2 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.32

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  review Unknown
    Sources
    • Expert Review Red
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services

    Green HTRA2 in Cataract


    Level 2: Ophthalmological disorders
    Version 0.373

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • 3-methylglutaconic aciduria type VIII (617248)

    Green HTRA2 in Mendeliome


    Version 1.2374

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • 3-methylglutaconic aciduria, type VIII, MIM# 617248

    Green HTRA2 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • 3-methylglutaconic aciduria, type VIII, MIM# 617248

    Green HTRA2 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.970

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • 3-methylglutaconic aciduria, type VIII, MIM# 617248

    Green HTRA2 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.115

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • 3-methylglutaconic aciduria, type VIII, MIM# 617248

    Green HTRA2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • 3-methylglutaconic aciduria type 8 MONDO:0044723

    Green HTRA2 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.272

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • 3-methylglutaconic aciduria type 8 MONDO:0044723

    Green HTRA2 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
    • 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive

    Green HTRA2 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive