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Primary immunodeficiency

Gene: CD4

Amber List (moderate evidence)

CD4 (CD4 molecule)
EnsemblGeneIds (GRCh38): ENSG00000010610
EnsemblGeneIds (GRCh37): ENSG00000010610
OMIM: 186940, Gene2Phenotype
CD4 is in 3 panels

4 reviews

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)

I don't know

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)

Red List (low evidence)

Louise Daugherty (Genomics England Curator)

I don't know

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • ESID Registry 20171117
Phenotypes
  • Selective CD4 cell deficiency
  • OKT4 epitope deficiency, 613949
  • Absence of CD4+ T cells
  • exuberant, relapsing, treatment-refractory warts
OMIM
186940
Clinvar variants
Variants in CD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cd4 has been classified as Amber List (Moderate Evidence).

5 May 2020, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: CD4 was changed from to BIALLELIC, autosomal or pseudoautosomal

5 May 2020, Gel status: 1

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

5 May 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CD4 were set to

5 May 2020, Gel status: 1

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

12 Jul 2018, Gel status: 1

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.

12 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cd4 has been classified as Red List (Low Evidence).

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CD4 was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

CD4 was created by Louise Daugherty