ANTXR1

anthrax toxin receptor 1
OMIM: 606410, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green ANTXR1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • GAPO syndrome, MIM# 230740

Green ANTXR1 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.32

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • GAPO syndrome, MIM# 230740

    Green ANTXR1 in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 0.86

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • GAPO syndrome, MIM# 230740

    Green ANTXR1 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
    • GAPO syndrome, 230740 (3)

    Red ANTXR1 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Genomics England PanelApp
    • Expert Review Red
    Phenotypes
    • {Hemangioma, capillary infantile, susceptibility to}, 602089
    • {Hemangioma, capillary infantile, susceptibility to}

    Red ANTXR1 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.328

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • GAPO syndrome MIM#230740

    Green ANTXR1 in Hair disorders


    Level 2: Dermatological disorders
    Version 0.71

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • GAPO syndrome, MIM# 230740

    Green ANTXR1 in Growth failure


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • GAPO syndrome, MIM# 230740

    Green ANTXR1 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • GAPO syndrome, MIM# 230740

    Green ANTXR1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • GAPO syndrome, 230740 (3)