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STRs in panel
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COVID-19 research

Gene: CD59

Green List (high evidence)

CD59 (CD59 molecule (CD59 blood group))
EnsemblGeneIds (GRCh38): ENSG00000085063
EnsemblGeneIds (GRCh37): ENSG00000085063
OMIM: 107271, Gene2Phenotype
CD59 is in 7 panels

4 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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Clearly an important disease gene and regulator of complement activity, though quite unlikely to present to an immunologist
Created: 18 Jun 2018, 3:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
paroxysmal nocturnal haemoglobinuria; chronic hemolysis; childhood relapsing immune-mediated polyneuropathy

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): CD59 .PanelApp HGNC gene symbol check: CD59 . IUIS Disease: Membrane Attack Complex Inhibitor (CD59) deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Hemolytic anemia, polyneuropathy. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A
Created: 2 Jul 2018, 10:35 a.m.
Comment on phenotypes: added phenotypes suggested by external clinical review
Created: 20 Jun 2018, 2:34 p.m.
Comment on list classification: Changed from Amber to Green enough evidence to support immune dysfunction, more than three unrelated cases, more that one variant type reported.
Created: 11 Jun 2018, 3:18 p.m.
Relevant phenotype for panel and 3 cases to support causation.
Created: 11 Jun 2018, 3:04 p.m.
Comment on publications: Added publications to support CD59 in Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy.
Created: 11 Jun 2018, 3:03 p.m.
Comment on phenotypes: added phenotype from orphanet and OMIM MIMid. CD59-mediated hemolytic anemia with immune-mediated polyneuropathy is an autosomal recessive disorder characterized by infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia. Immunosuppressive treatment may result in some clinical improvement (summary by Nevo et al., 2013).
Created: 11 Jun 2018, 2:26 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: CD59, PanelApp HGNC gene symbol check: CD59, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Complement deficiency / CD59 antigen P18-20 deficiency (CD59); Complement deficiencies / Complement deficiency / Membrane Attack Complex Inhibitor (CD59) deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CD59, GRID_Gene_Symbol: CD59, GRID_Transcript_ENS_Community submitted: ENST00000395850, GRID_Transcript_RefSeq: NM_203330.2, GRID_Transcript_ENS_used_on_Production: ENST00000395850
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Primary CD59 deficiency
  • paroxysmal nocturnal haemoglobinuria
  • CD59 antigen P18-20 deficiency (CD59)
  • Hemolytic anemia, polyneuropathy
  • Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
  • childhood relapsing immune-mediated polyneuropathy
  • Complement Deficiencies
  • chronic hemolysis
  • Membrane Attack Complex Inhibitor (CD59) deficiency
OMIM
107271
Clinvar variants
Variants in CD59
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: CD59 was added gene: CD59 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD59 were set to 1382994; 1699124; 23149847; 24382084; 25716358 Phenotypes for gene: CD59 were set to Primary CD59 deficiency; paroxysmal nocturnal haemoglobinuria; CD59 antigen P18-20 deficiency (CD59); Hemolytic anemia, polyneuropathy; Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300; childhood relapsing immune-mediated polyneuropathy; Complement Deficiencies; chronic hemolysis; Membrane Attack Complex Inhibitor (CD59) deficiency