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  3. CD59
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Hereditary neuropathy or pain disorder

Gene: CD59

Green List (high evidence)
CD59 (CD59 molecule (CD59 blood group))
EnsemblGeneIds (GRCh38): ENSG00000085063
EnsemblGeneIds (GRCh37): ENSG00000085063
OMIM: 107271, Gene2Phenotype
CD59 is in 6 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
CD59 variants have been associated with Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, OMIM:612300. At least three CD59 variants have been reported in at least three cases, and CD59 deficiency was associated with each of these variants (PMID: 1382994; 23149847; 24382084). Neuropathy was observed in patients reported in PMID: 23149847; 24382084.
Created: 4 Nov 2024, 11:26 a.m. | Last Modified: 4 Nov 2024, 11:26 a.m.
Panel Version: 6.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, OMIM:612300; primary CD59 deficiency, MONDO:0012858

Publications

Created: 4 Nov 2024, 11:26 a.m.
Last Modified: 4 Nov 2024, 11:26 a.m.
Panel version: 6.148

Louise Daugherty (Genomics England Curator)

I don't know

Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype: haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy
Created: 6 Dec 2019, 2:13 p.m. | Last Modified: 6 Dec 2019, 2:13 p.m.
Panel Version: 0.34
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 2:12 p.m. | Last Modified: 6 Dec 2019, 2:12 p.m.
Panel Version: 0.34
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.
Created: 11 Jun 2019, 1:40 p.m.

Panel version: 0.34

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

No wthat the R78 panel includes complex phenotypees with peripheral neuropathy this should now be included in the R78 panel
Created: 20 Oct 2024, 9:14 a.m. | Last Modified: 20 Oct 2024, 9:14 a.m.
Panel Version: 5.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Onset 1st and 2nd decade. Haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy

Publications

Created: 6 Jun 2019, 10:52 a.m.

Panel version: 5.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, OMIM:612300
  • primary CD59 deficiency, MONDO:0012858
OMIM
107271
Clinvar variants
Variants in CD59
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: CD59. Tag Q3_24_NHS_review was removed from gene: CD59.

24 Feb 2025, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to CD59. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Nov 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CD59 were changed from Onset 1st and 2nd decade. Haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy; Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 to Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, OMIM:612300; primary CD59 deficiency, MONDO:0012858

4 Nov 2024, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: CD59. Tag Q3_24_NHS_review tag was added to gene: CD59.

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cd59 has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 1

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 Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD59 were set to 24382084; 23149847 Phenotypes for gene: CD59 were set to Onset 1st and 2nd decade. Haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy; Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300