AIPL1

aryl hydrocarbon receptor interacting protein like 1
OMIM: 604392, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green AIPL1 in Mendeliome


Version 1.1891

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
  • Leber congenital amaurosis 4, 604393
  • Cone-rod dystrophy, 604393
  • Retinitis pigmentosa, juvenile, 604393

Green AIPL1 in Retinitis pigmentosa_Autosomal Recessive/X-linked


Level 2: Ophthalmological disorders
Version 0.147

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • AIPL1-related retinopathy (MONDO:0100438)

    Green AIPL1 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
    • Cone-rod dystrophy, 604393 (3)

    Green AIPL1 in Cone-rod Dystrophy


    Level 2: Ophthalmological disorders
    Version 0.54

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Leber congenital amaurosis 4, 604393
    • Cone-rod dystrophy, 604393
    • Retinitis pigmentosa, juvenile, 604393

    Green AIPL1 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.21

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leber congenital amaurosis 4, MIM# 604393

    Red AIPL1 in Fetal anomalies


    Version 1.255

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Leber congenital amaurosis 4, 604393
    • Cone-rod dystrophy, 604393
    • Retinitis pigmentosa, juvenile, 604393

    Green AIPL1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cone-rod dystrophy, 604393 (3)

    Green AIPL1 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cone-rod dystrophy, 604393 (3)