Primary immunodeficiencyGene: SART3
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.
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.
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.
Gene: sart3 has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for gene SART3 were set to Porokeratosis
SART3 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
SART3 was created by Louise Daugherty