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COVID-19 research

Gene: CD27

Green List (high evidence)

CD27 (CD27 molecule)
EnsemblGeneIds (GRCh38): ENSG00000139193
EnsemblGeneIds (GRCh37): ENSG00000139193
OMIM: 186711, Gene2Phenotype
CD27 is in 3 panels

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CD27 .PanelApp HGNC gene symbol check: CD27 . IUIS Disease: CD27 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: No memory B cells , .IUIS Other affected cells: N/A. IUIS Associated features: Features triggered by EBV infection, HLH, aplastic anemia, low iNKT cells, lymphoma. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Susceptibility to EBV and Lymphoproliferative Conditions
Created: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: CD27, PanelApp HGNC gene symbol check: CD27, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency; Diseases of immune dysregulation / Hemophagocytic Lymphohistiocytosis (HLH) / CD27 deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CD27, GRID_Gene_Symbol: CD27, GRID_Transcript_ENS_Community submitted: ENST00000266557, GRID_Transcript_RefSeq: NM_001242.4, GRID_Transcript_ENS_used_on_Production: ENST00000266557
Created: 17 Apr 2018, 12:12 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added by expert reviewer and rated green. Multiple cases and different variants reported.
Created: 6 Jun 2016, 9:59 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Lymphoproliferative syndrome 2
  • Combined immunodeficiency
  • Diseases of Immune Dysregulation
  • Features triggered by EBV infection, HLH, aplastic anemia, low iNKT cells, lymphoma
  • Combined immunodeficiency with EBV-associated lymphoproliferation
  • CD27 deficiency
OMIM
186711
Clinvar variants
Variants in CD27
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CD27 was added gene: CD27 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD27 were set to 22197273; 25843314; 22801960 Phenotypes for gene: CD27 were set to Lymphoproliferative syndrome 2; Combined immunodeficiency; Diseases of Immune Dysregulation; Features triggered by EBV infection, HLH, aplastic anemia, low iNKT cells, lymphoma; Combined immunodeficiency with EBV-associated lymphoproliferation; CD27 deficiency