1. Panels
  2. Newborns additional phenotypes panel 1
  3. CD46
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Newborns additional phenotypes panel 1

Gene: CD46

Amber List (moderate evidence)
CD46 (CD46 molecule)
EnsemblGeneIds (GRCh38): ENSG00000117335
EnsemblGeneIds (GRCh37): ENSG00000117335
OMIM: 120920, Gene2Phenotype
CD46 is in 5 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 7 Jul 2023, 9:30 a.m. | Last Modified: 7 Jul 2023, 9:30 a.m.
Panel Version: 0.31
Created: 7 Jul 2023, 9:30 a.m.
Last Modified: 7 Jul 2023, 9:30 a.m.
Panel version: 0.31

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 2, autosomal dominant
OMIM
120920
Clinvar variants
Variants in CD46
Penetrance
None
Panels with this gene

History Filter Activity

6 Feb 2024, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CD46 were changed from Hemolytic uremic syndrome, atypical, susceptibility to, 2 to Hemolytic uremic syndrome, atypical, susceptibility to, 2, autosomal dominant

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 2 for gene: CD46

5 Jul 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: CD46 was added gene: CD46 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Amber Mode of inheritance for gene: CD46 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CD46 were set to Hemolytic uremic syndrome, atypical, susceptibility to, 2