UNC119

unc-119 lipid binding chaperone
OMIM: 604011, Gene2Phenotype

6 panels

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

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

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


Level 2: Viral research
Version 1.142

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 615518
  • Combined immunodeficiency
  • Immunodeficiency 13/ UNC119 deficiency
Red UNC119 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.6
Latest signed off version: v5.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Cone-Rod Dystrophy, Dominant
  • CD4 lymphopenia, idiopathic (Gorska (2012) Blood 119, 1399)
Red UNC119 in Structural eye disease


Version 3.79
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Cone-rod dystrophy
  • Immunodeficiency 13, 615518
  • Eye Disorders
Amber UNC119 in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Pontocerebellar hypoplasia type 2C, 612390