Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

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
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
  • CD59 antigen P18-20 deficiency (CD59)
  • Membrane Attack Complex Inhibitor (CD59) deficiency
  • Primary CD59 deficiency
  • paroxysmal nocturnal haemoglobinuria
  • chronic hemolysis
  • childhood relapsing immune-mediated polyneuropathy
  • Hemolytic anemia, polyneuropathy
  • Complement Deficiencies
OMIM
107271
Clinvar variants
Variants in CD59
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CD59.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to CD59.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CD59.

12 Jul 2018, Gel status: 4

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.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene CD59 were set to Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300, CD59 antigen P18-20 deficiency (CD59), Membrane Attack Complex Inhibitor (CD59) deficiency, Primary CD59 deficiency, paroxysmal nocturnal haemoglobinuria, chronic hemolysis, childhood relapsing immune-mediated polyneuropathy, Hemolytic anemia, polyneuropathy, Complement Deficiencies

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to CD59. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to CD59. Panel: Primary immunodeficiency disorders

20 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cd59 has been classified as Green List (High Evidence).

20 Jun 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CD59 were set to Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300; CD59 antigen P18-20 deficiency (CD59); Membrane Attack Complex Inhibitor (CD59) deficiency; Primary CD59 deficiency; paroxysmal nocturnal haemoglobinuria; chronic hemolysis; childhood relapsing immune-mediated polyneuropathy

11 Jun 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CD59 were set to 1382994; 23149847; 24382084; 1699124; 25716358

11 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cd59 has been classified as Green List (High Evidence).

11 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CD59 were set to 1382994; 23149847; 24382084; 1699124

11 Jun 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CD59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

11 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CD59 were set to Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300; CD59 antigen P18-20 deficiency (CD59); Membrane Attack Complex Inhibitor (CD59) deficiency; Primary CD59 deficiency

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to CD59. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to CD59. Panel: Primary immunodeficiency disorders Phenotypes for gene CD59 were set to Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, CD59 antigen P18-20 deficiency (CD59), Membrane Attack Complex Inhibitor (CD59) deficiency

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene CD59 were set to Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CD59 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

CD59 was created by Louise Daugherty