PanelApp
  1. Genes and Genomic Entities
  2. HTRA1

HTRA1

HtrA serine peptidase 1
OMIM: 602194, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green HTRA1 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.50

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • CARASIL syndrome MIM#600142
    • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 MIM#616779

    Green HTRA1 in Vasculitis


    Level 2: Immunological disorders
    Version 0.93

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green HTRA1 in Mendeliome


    Version 1.3512

    		1 review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • {Macular degeneration, age-related, 7}, 6101493
    • {Macular degeneration, age-related, neovascular type}, 610149
    • CARASIL syndrome, 600142
    • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779

    Green HTRA1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green HTRA1 in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.151

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779
    • CARASIL syndrome, 600142

    Green HTRA1 in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.28

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • CARASIL syndrome, MIM# 600142
    • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, MIM# 616779

    Green HTRA1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • CARASIL syndrome

    Red HTRA1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • CARASIL syndrome, MIM# 600142