SCID
Gene: TBX1
This gene was present in the original PanelApp PID panel dataset (review in April 2018) rated as Red. The gene is present in the 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, 1:26 p.m.
Comment on list classification: After reviewer ratings and comments, this should remain on the red list for now.Created: 20 May 2016, 2:21 p.m.
I would chose amber, we have seen it in several patients and functional as well as immunological data suggests real (patient lacks thymus but not 22q by array, missense mutation identified), but haven't published so at the moment the data isn't there.Created: 20 Oct 2015, 1:47 p.m.
TBX1 is among the genes in the region 22q11.21 deleted in di George syndrome, which sometimes causes SCID. The aetiologic role of TBX1 in this phenotype is not known. OMIM provides a specific ID for di George syndrome, 188400Created: 19 Oct 2015, 8:03 p.m.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
TBX1 was added to SCIDpanel. Sources: Emory Genetics Laboratory