Atypical haemolytic uraemic syndrome

Gene: CD46

Green List (high evidence)

CD46 (CD46 molecule)
EnsemblGeneIds (GRCh38): ENSG00000117335
EnsemblGeneIds (GRCh37): ENSG00000117335
OMIM: 120920, Gene2Phenotype
CD46 is in 8 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.

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

Daniel Gale (UCL)

Green List (high evidence)

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

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.

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

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 17/08/2016

15 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Aug 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CD46 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

15 Aug 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CD46 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

15 Aug 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CD46 were set to Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922

15 Aug 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CD46 were set to 14615110; 14566051; 16621965

15 Aug 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CD46 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Oct 2015, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CD46 were set to Atypical Hemolytic-Uremic Syndrome;{Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922;Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

29 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CD46 was added to Atypical haemolytic uraemic syndromepanel. Source: UKGTN

29 Oct 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

CD46 was added to Atypical haemolytic uraemic syndromepanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene CD46 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CD46 was added to Atypical haemolytic uraemic syndromepanel. Source: Radboud University Medical Center, Nijmegen

29 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CD46 was added to Atypical haemolytic uraemic syndromepanel. Sources: Eligibility statement prior genetic testing

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CD46 was created by ellenmcdonagh