UNC119

unc-119 lipid binding chaperone
OMIM: 604011, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red UNC119 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Red UNC119 in COVID-19 research


Level 2: Viral research
Version 1.146

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • GRID V2.0
  • ESID Registry 20171117
  • Expert Review Red
  • Expert Review Red
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • ?Immunodeficiency 13, OMIM:615518
Red UNC119 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • ?Immunodeficiency 13, OMIM:615518
Green UNC119 in Retinal disorders


Level 2: Ophthalmology
Version 8.86
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy 24, OMIM:620342
  • retinal disorder, MONDO:0005283
Tags
  • Q3_25_demote_amber
  • Q3_25_expert_review
Red UNC119 in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Cone-rod dystrophy 24, OMIM:620342