Combined Immunodeficiency

Gene: UNC119

Red List (low evidence)

UNC119 (unc-119 lipid binding chaperone)
EnsemblGeneIds (GRCh38): ENSG00000109103
EnsemblGeneIds (GRCh37): ENSG00000109103
OMIM: 604011, Gene2Phenotype
UNC119 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single case reported with the missense Gly22Val. The allele frequency of this variant is >2% in the African/African American subpopulation in gnomAD v2.1, including 6 homozygotes.
Sources: Expert list
Created: 18 Mar 2021, 1:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Immunodeficiency 13 MIM#615518

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • ?Immunodeficiency 13 MIM#615518
OMIM
604011
Clinvar variants
Variants in UNC119
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: unc119 has been classified as Red List (Low Evidence).

18 Mar 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: UNC119 was added gene: UNC119 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: UNC119 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UNC119 were set to 22184408 Phenotypes for gene: UNC119 were set to ?Immunodeficiency 13 MIM#615518 Review for gene: UNC119 was set to RED