Complement Deficiencies
Gene: CD46
CD46 (CD46 molecule)
EnsemblGeneIds (GRCh38): ENSG00000117335
EnsemblGeneIds (GRCh37): ENSG00000117335
OMIM: 120920, Gene2Phenotype
CD46 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000117335
EnsemblGeneIds (GRCh37): ENSG00000117335
OMIM: 120920, Gene2Phenotype
CD46 is in 5 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
Genereviews:
Atypical HUS associated with CD46 pathogenic variants typically presents in childhood with a milder acute episode.
Reports of modifiers leading to a more severe CD46-related aHUS
digenic inheritance has been suggested involving related genes of the complement pathway (PMIDs: 26054645, 26826462).Created: 11 Apr 2022, 6:29 a.m. | Last Modified: 11 Apr 2022, 6:29 a.m.
Panel Version: 0.12848
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
{Hemolytic uremic syndrome, atypical, susceptibility to, 2} MIM#612922
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 120920
- Clinvar variants
- Variants in CD46
- 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: CD46 was added gene: CD46 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: CD46 was set to Unknown