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COVID-19 research

Gene: SLC29A3

Green List (high evidence)

SLC29A3 (solute carrier family 29 member 3)
EnsemblGeneIds (GRCh38): ENSG00000198246
EnsemblGeneIds (GRCh37): ENSG00000198246
OMIM: 612373, Gene2Phenotype
SLC29A3 is in 11 panels

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on publications: Publication from OMIM entry
Created: 10 May 2018, 2:37 p.m.
Comment on list classification: Cases from more than three families with plausible disease causing mutations.
Created: 10 May 2018, 2:25 p.m.
SLC29A3 is associated with Histiocytosis-lymphadenopathy plus syndrome in OMIM but not in Gene2Phenotype. It is a group of conditions with histiocytosis as a common feature (Genetics Home Reference). OMIM reports 14 variants in this gene associated with the disorder. Cases from more than three families with plausible disease causing mutations.
Created: 10 May 2018, 2:25 p.m.
Comment on phenotypes: Added MIM ID to Histiocytosis-lymphadenopathy plus syndrome
Created: 10 May 2018, 1:37 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): SLC29A3 .PanelApp HGNC gene symbol check: SLC29A3 . IUIS Disease: SLC29A3 mutation . IUIS Inheritance: AR .T cells: Increased activated T cells, .B cells: N/A, .IUIS Other affected cells: Leukocytes, bone cells. IUIS Associated features: Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome . IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Non-Inflammasome Related Conditions
Created: 2 Jul 2018, 10:35 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, 3:10 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: SLC29A3, PanelApp HGNC gene symbol check: SLC29A3, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Autoinflammatory disorders / Other autoinflammatory diseases with known genetic defect / Other autoinflammatory diseases with known genetic defect
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: SLC29A3, GRID_Gene_Symbol: SLC29A3, GRID_Transcript_ENS_Community submitted: ENST00000373189, GRID_Transcript_RefSeq: NM_018344.5, GRID_Transcript_ENS_used_on_Production: ENST00000373189
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Other autoinflammatory diseases with known genetic defect
  • Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome
  • Autoinflammatory Disorders
  • Histiocytosis-lymphadenopathy plus syndrome 602782
OMIM
612373
Clinvar variants
Variants in SLC29A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: SLC29A3 was added gene: SLC29A3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC29A3 were set to 22875837; 16650224; 16155931; 20140240; 18947330; 17461801; 19336477; 16118898; 21178579; 19175903; 9545394; 21888995; 22238637; 23530176; 22653152; 18940313; 20619369 Phenotypes for gene: SLC29A3 were set to Other autoinflammatory diseases with known genetic defect; Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome; Autoinflammatory Disorders; Histiocytosis-lymphadenopathy plus syndrome 602782