Combined Immunodeficiency
Gene: UNC119
UNC119 (unc-119 lipid binding chaperone)
EnsemblGeneIds (GRCh38): ENSG00000109103
EnsemblGeneIds (GRCh37): ENSG00000109103
OMIM: 604011, Gene2Phenotype
UNC119 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000109103
EnsemblGeneIds (GRCh37): ENSG00000109103
OMIM: 604011, Gene2Phenotype
UNC119 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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 listCreated: 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