UNC119:Ensemblv115

unc-119 lipid binding chaperone
OMIM: 604011, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red UNC119 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

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

Amber UNC119 in Cone-rod Dystrophy


Level 2: Ophthalmological disorders
Version 1.0

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