Genes in panel
STRs in panel
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COVID-19 research

Gene: SART3

Red List (low evidence)

SART3 (squamous cell carcinoma antigen recognized by T-cells 3)
EnsemblGeneIds (GRCh38): ENSG00000075856
EnsemblGeneIds (GRCh37): ENSG00000075856
OMIM: 611684, Gene2Phenotype
SART3 is in 4 panels

4 reviews

Catherine Snow (Genomics England)

Red List (low evidence)

No publications associating SART3 and viral susceptibility.
Created: 14 Apr 2020, 10:46 a.m. | Last Modified: 14 Apr 2020, 10:46 a.m.
Panel Version: 0.81

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Eleanor Williams (Genomics England Curator)

Comment on list classification: Rating this gene red due to lack of evidence with association with any disorders relevant to the PID panel.
Created: 9 May 2018, 3:37 p.m.
No association with disease in OMIM, Gene2Phenotype, Orphanet or with any pathogenic SNV in ClinVar. SART3 is also known as Tip110. Whitmill et al 2016 (PMID: 26896687) have reviewed the structure and function of Tip110. It plays a role in the regulation of pre-mRNA splicing and its expression is highest in cells and tissues with cancerous phenotypes. Several peptides of the Tip110 protein have been identified as tumor epitopes. There is some evidence from 1 Chinese family that variants in this gene are associated with Disseminated superficial actinic porokeratosis from Zhang et al 2005 (PMID: 15840095) but it is not clear if this disorder is related with immunodeficiency. Rating this gene red due to lack of evidence with association with any disorders relevant to the PID panel.
Created: 9 May 2018, 3:36 p.m.

Publications

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

External expert review notes Red status, so I have kept this gene Red on this panel until further evidence
Created: 13 Jun 2018, 10:04 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, 3:31 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: SART3, GRID_Gene_Symbol: SART3, GRID_Transcript_ENS_Community submitted: ENST00000228284, GRID_Transcript_RefSeq: NM_014706.3, GRID_Transcript_ENS_used_on_Production: ENST00000228284
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
Unknown
Sources
Phenotypes
  • Porokeratosis
OMIM
611684
Clinvar variants
Variants in SART3
Penetrance
None
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: SART3 was added gene: SART3 was added to Viral susceptibility. Sources: Expert Review Red,GRID V2.0 Mode of inheritance for gene: SART3 was set to Unknown Phenotypes for gene: SART3 were set to Porokeratosis