COVID-19 researchGene: UNC119
Created: 29 Jun 2018, 3:54 p.m.
Checked OMIM and literature (through PubMed) for updates in April 2020 - no new cases reported. Keep red.
Created: 6 Apr 2020, 12:28 p.m. | Last Modified: 6 Apr 2020, 12:28 p.m.
Panel Version: 0.50
Suggest rating as red as only one case reported and conflicting clinical significance in Clinvar (although relevant disorder not given).
Created: 21 Jun 2018, 4:06 p.m.
Comment on mode of inheritance: Based on 1 case with a heterozygous variant
Created: 21 Jun 2018, 3:13 p.m.
Comment on publications: Added publication reporting known variant associated with Immunodeficiency 13
Created: 21 Jun 2018, 3:11 p.m.
OMIM has provisionally associated UNC119 with Immunodeficiency 13 and report 1 case published by Gorska and Alam (2012) (PMID: 22184408) of a 32-year-old woman with CD4 lymphopenia with a heterozygous dominant-negative missense mutation in the UNC119 gene (G22V). To confirm that the reduction in LCK activity observed in the patient was not due to a defect in the LCK gene, Gorska and Alam (2012) also sequenced LCK but found no mutations. No UNC119 mutations were found in 8 patients with secondary CD4 lymphopenia or in 60 controls. Search of the literature found no other cases. In Clinvar the G22V variant has been rated benign or likely benign by two other submitters (no phenotype/disorder specified) and likely benign for
Cone-Rod Dystrophy, Dominant.
Created: 21 Jun 2018, 3:10 p.m.
Comment on phenotypes: Added OMIM associated phenotype 'Immunodeficiency 13'
Created: 21 Jun 2018, 2:49 p.m.
Comment on list classification: Changed from Amber to Red until more info to support gene-disease association. Currently only one case reported in literature. Gene not present on any other PID related panels or within ESID or IUIS classifications. Request evidences / immunological association of this gene from GRID
Created: 6 Jul 2018, 8:42 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s)
GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 19 Apr 2018, 10:56 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: UNC119D, PanelApp HGNC gene symbol check: UNC119, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: UNC119, GRID_Gene_Symbol: UNC119, GRID_Transcript_ENS_Community submitted: ENST00000335765, GRID_Transcript_RefSeq: NM_005148.3, GRID_Transcript_ENS_used_on_Production: ENST00000335765
Created: 17 Apr 2018, 12:12 p.m.
gene: UNC119 was added gene: UNC119 was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117,GRID V2.0 Mode of inheritance for gene: UNC119 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UNC119 were set to 22184408 Phenotypes for gene: UNC119 were set to Immunodeficiency 13 615518; Combined immunodeficiency; Immunodeficiency 13/ UNC119 deficiency