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Red cell disorders

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, 8:22 a.m. | Last Modified: 5 Sep 2021, 8:24 a.m.
Panel Version: 0.33

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 5 Sep 2021, 8:22 a.m.
Last Modified: 5 Sep 2021, 8:24 a.m.
Panel version: 0.32

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • North West GLH
  • NHS GMS
Phenotypes
  • Haemolytic anaemia, CD59-mediated, with or without immune-mediated polyneuropathy, MIM# 612300
OMIM
107271
Clinvar variants
Variants in CD59
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CD59 were changed from Dyskeratosis congenita, X-linked, 305000; 305000 Dyskeratosis congenita, X-linked to Haemolytic anaemia, CD59-mediated, with or without immune-mediated polyneuropathy, MIM# 612300

15 Oct 2020, Gel status: 3

Set Phenotypes, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Dyskeratosis congenita, X-linked, 305000; 305000 Dyskeratosis congenita, X-linked for gene: CD59 Publications for gene CD59 were updated from 23149847; 1382994; 24382084 to 1382994; 24382084; 23149847

15 Sep 2020, Gel status: 3

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 Rare anaemia_GEL. Sources: NHS GMS,North West GLH,Yorkshire and North East GLH,Expert Review Green Mode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD59 were set to 23149847; 1382994; 24382084 Phenotypes for gene: CD59 were set to Dyskeratosis congenita, X-linked, 305000; 305000 Dyskeratosis congenita, X-linked