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  2. Structural eye disease
  3. UNC119
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Structural eye disease

Gene: UNC119

Red List (low evidence)
UNC119 (unc-119 lipid binding chaperone)
EnsemblGeneIds (GRCh38): ENSG00000109103
EnsemblGeneIds (GRCh37): ENSG00000109103
OMIM: 604011, Gene2Phenotype
UNC119 is in 5 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cone-rod dystrophy; Immunodeficiency 13; ; 615518

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cone-rod dystrophy; Immunodeficiency 13, 615518

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Cone-rod dystrophy 24, OMIM:620342
OMIM
604011
Clinvar variants
Variants in UNC119
Penetrance
None
Panels with this gene

History Filter Activity

24 Sep 2025, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: UNC119 were changed from Cone-rod dystrophy; Immunodeficiency 13, 615518; Eye Disorders to Cone-rod dystrophy 24, OMIM:620342

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to UNC119. Mode of inheritance for gene UNC119 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Cone-rod dystrophy; Immunodeficiency 13, 615518 for gene: UNC119

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: UNC119 was added gene: UNC119 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: UNC119 was set to Phenotypes for gene: UNC119 were set to Eye Disorders