Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CD4
Comment on list classification: There are two unrelated cases and functional evidence in support of the association of this gene with this panel. Hence, this gene can be promoted to green rating in the next GMS review.Created: 1 Nov 2023, 10:36 p.m. | Last Modified: 1 Nov 2023, 10:36 p.m.
Panel Version: 4.97
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 79, OMIM:619238; OKT4 epitope deficiency, OMIM:613949
Publications
PMID: 33471124 - second report - patient with homozygous missense variant in the translation-initiation codonCreated: 13 Oct 2023, 2:38 p.m. | Last Modified: 13 Oct 2023, 2:38 p.m.
Panel Version: 4.41
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 79
Publications
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
Phenotypes
Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts
Publications
External expert review notes Red status due to no evident link to immunodeficiency, so I have kept this gene Red on this panelCreated: 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 deficiencyCreated: 17 Apr 2018, 12:29 p.m.
Gene: cd4 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CD4 were changed from Selective CD4 cell deficiency; OKT4 epitope deficiency, 613949; Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts to Immunodeficiency 79, OMIM:619238; OKT4 epitope deficiency, OMIM:613949
Publications for gene: CD4 were set to 31781092
Tag Q4_23_promote_green tag was added to gene: CD4. Tag Q4_23_NHS_review tag was added to gene: CD4.
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