Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CD4EnsemblGeneIds (GRCh38): ENSG00000010610
EnsemblGeneIds (GRCh37): ENSG00000010610
OMIM: 186940, Gene2Phenotype
CD4 is in 3 panels
7 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 3 May 2024, 8:36 p.m. | Last Modified: 3 May 2024, 8:36 p.m.
Panel Version: 5.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
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
Hannah Knight (NIHR BioResource - University of Cambridge)
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
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Sophie Hambleton (Newcastle University)
Louise Daugherty (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- ESID Registry 20171117
- Phenotypes
-
- Immunodeficiency 79, OMIM:619238
- OKT4 epitope deficiency, OMIM:613949
- OMIM
- 186940
- Clinvar variants
- Variants in CD4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: CD4. Tag Q4_23_NHS_review was removed from gene: CD4.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to CD4. Source Expert Review Green was added to CD4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: cd4 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)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
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: CD4 were set to 31781092
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green tag was added to gene: CD4. Tag Q4_23_NHS_review tag was added to gene: CD4.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cd4 has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: CD4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: CD4 were set to
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CD4 were changed from Selective CD4 cell deficiency to Selective CD4 cell deficiency; OKT4 epitope deficiency, 613949
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)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.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: cd4 has been classified as Red List (Low Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)CD4 was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117
Created
Louise Daugherty (Genomics England Curator)CD4 was created by Louise Daugherty