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Complement Deficiencies

Gene: CD55

Green List (high evidence)
CD55 (CD55 molecule (Cromer blood group))
EnsemblGeneIds (GRCh38): ENSG00000196352
EnsemblGeneIds (GRCh37): ENSG00000196352
OMIM: 125240, Gene2Phenotype
CD55 is in 5 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

>5 families reported
Created: 11 Apr 2022, 6:31 a.m. | Last Modified: 11 Apr 2022, 6:31 a.m.
Panel Version: 0.12849

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 11 Apr 2022, 6:31 a.m.
Last Modified: 11 Apr 2022, 6:31 a.m.
Panel version: Imported from Mendeliome panel version 0.12849

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nine families reported.
Sources: Expert list
Created: 8 Jan 2020, 9:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300

Publications

Created: 8 Jan 2020, 9:08 p.m.

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300
OMIM
125240
Clinvar variants
Variants in CD55
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd55 has been classified as Green List (High Evidence).

8 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd55 has been classified as Green List (High Evidence).

8 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CD55 was added gene: CD55 was added to Complement deficiencies_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD55 were set to 28657829; 28657861 Phenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300 Review for gene: CD55 was set to GREEN