Hereditary Neuropathy - complex
Gene: CD59EnsemblGeneIds (GRCh38): ENSG00000085063
EnsemblGeneIds (GRCh37): ENSG00000085063
OMIM: 107271, Gene2Phenotype
CD59 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia.
Sources: NHS GMSCreated: 31 Mar 2020, 7:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy 612300
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy 612300
- OMIM
- 107271
- Clinvar variants
- Variants in CD59
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cd59 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cd59 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CD59 was added gene: CD59 was added to Hereditary Neuropathy - complex. Sources: NHS GMS 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 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy 612300 Review for gene: CD59 was set to GREEN