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  3. CD59
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Complement Deficiencies

Gene: CD59

Green List (high evidence)
CD59 (CD59 molecule (CD59 blood group))
EnsemblGeneIds (GRCh38): ENSG00000085063
EnsemblGeneIds (GRCh37): ENSG00000085063
OMIM: 107271, Gene2Phenotype
CD59 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia. Intermittent episodes of haemolysis.

More than 5 unrelated families reported.
Created: 5 Sep 2021, 8:24 a.m. | Last Modified: 5 Sep 2021, 8:24 a.m.
Panel Version: 0.9045

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Haemolytic anaemia, CD59-mediated, with or without immune-mediated polyneuropathy, MIM# 612300

Publications

Created: 5 Sep 2021, 8:24 a.m.
Last Modified: 5 Sep 2021, 8:24 a.m.
Panel version: Imported from Mendeliome panel version 0.9045

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
OMIM
107271
Clinvar variants
Variants in CD59
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CD59 was added gene: CD59 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CD59 was set to Unknown