Primary immunodeficiencyGene: CD4
Comment on list classification: Promoted from Red to Amber based on expert review.
Created: 5 May 2020, 3:14 p.m. | Last Modified: 5 May 2020, 3:14 p.m.
Panel Version: 2.155
Single individual reported, functional data, emerging gene.
Created: 1 May 2020, 3:42 a.m. | Last Modified: 1 May 2020, 3:43 a.m.
Panel Version: 2.139
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts
External expert review notes Red status due to no evident link to immunodeficiency, so I have kept this gene Red on this panel
Created: 12 Jun 2018, 3:32 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: CD4, PanelApp HGNC gene symbol check: CD4, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / CD4-deficiency / Selective CD4 cell deficiency
Created: 17 Apr 2018, 12:29 p.m.
Gene: cd4 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: CD4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD4 were changed from Selective CD4 cell deficiency; OKT4 epitope deficiency, 613949 to Selective CD4 cell deficiency; OKT4 epitope deficiency, 613949; Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts
Publications for gene: CD4 were set to
Phenotypes for gene: CD4 were changed from Selective CD4 cell deficiency to Selective CD4 cell deficiency; OKT4 epitope deficiency, 613949
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: cd4 has been classified as Red List (Low Evidence).
CD4 was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117
CD4 was created by Louise Daugherty