Cytopenias and congenital anaemias
Gene: CD59EnsemblGeneIds (GRCh38): ENSG00000085063
EnsemblGeneIds (GRCh37): ENSG00000085063
OMIM: 107271, Gene2Phenotype
CD59 is in 6 panels
1 review
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Relevant phenotype for panel and 3 cases to support causation.Created: 9 Mar 2017, 10:49 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 9 Mar 2017, 10:48 a.m.
Comment on list classification: Updated rating from Green to Red: 3 cases in multiple populations supporting CD59-mediated hemolytic anemia.Created: 9 Mar 2017, 10:47 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
- OMIM
- 107271
- Clinvar variants
- Variants in CD59
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for CD59 was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Rebecca Foulger (Genomics England curator)Publications for CD59 were set to 24382084; 23149847; 1382994
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Created
Louise Daugherty (Genomics England Curator)CD59 was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)CD59 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen