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Primary 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 6 panels

3 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

one patient
Created: 29 Jun 2018, 3:54 p.m.

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

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.

Louise Daugherty (Genomics England Curator)

I don't know

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.

Details

Mode of Inheritance
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
OMIM
604011
Clinvar variants
Variants in UNC119
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

6 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

6 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

21 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: unc119 has been classified as Amber List (Moderate Evidence).

21 Jun 2018, Gel status: 2

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: UNC119 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Jun 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: UNC119 were set to 22184408

21 Jun 2018, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: UNC119 were set to Immunodeficiency 13/ UNC119 deficiency; Combined immunodeficiency; Immunodeficiency 13 615518

19 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to UNC119. Panel: Primary immunodeficiency disorders Phenotypes for gene UNC119 were set to Immunodeficiency 13/ UNC119 deficiency, Combined immunodeficiency

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene UNC119 were set to Immunodeficiency 13/ UNC119 deficiency

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

UNC119 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

UNC119 was created by Louise Daugherty