UNC119

unc-119 lipid binding chaperone
OMIM: 604011, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber UNC119 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Cone-rod dystrophy 24, MIM# 620342
  • Immunodeficiency 13 MIM#615518

Red UNC119 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.66

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • ?Immunodeficiency 13 MIM#615518

    Amber UNC119 in Cone-rod Dystrophy


    Level 2: Ophthalmological disorders
    Version 0.54

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Cone-rod dystrophy 24, MIM# 620342