Atypical haemolytic uraemic syndrome
Gene: CD46

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

4 reviews

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Valerie Wilson, The National Renal Complement Therapeutics Centre, February 2019 on behalf of Yorkshire and North East GLH for the GMS Renal Specialist Test Group; Gene Symbol submitted: CD46; Suggested initial gene rating: none provided;
Created: 12 Feb 2019, 12:40 p.m.

Created: 12 Feb 2019, 12:40 p.m.

Panel version: 1.7

Tim Goodship (Newcastle University)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Daniel Gale (UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 6 variants
Created: 15 Aug 2016, 10:11 a.m.

Comment on mode of inheritance: Three variants reported as monoallelic. Two as compound momoallelic and c.218C>T, p.Arg25* as mono and biallelic, thought to be founder variant with variable penetrance in Sardinia
Created: 15 Aug 2016, 10:11 a.m.

Created: 15 Aug 2016, 10:11 a.m.

Panel version: 0.16

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
UKGTN
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Eligibility statement prior genetic testing

Phenotypes

Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922

OMIM

120920

Clinvar variants

Variants in CD46

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

12 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to CD46. Rating Changed from Green List (high evidence) to Green List (high evidence)

17 Aug 2016, Gel status: 4