Atypical haemolytic uraemic syndrome
Gene: CD46
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 6 variantsCreated: 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 SardiniaCreated: 15 Aug 2016, 10:11 a.m.
Source NHS GMS was added to CD46. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted 17/08/2016
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CD46 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for CD46 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for CD46 were set to Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922
Publications for CD46 were set to 14615110; 14566051; 16621965
Mode of inheritance for CD46 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
CD46 was added to Atypical haemolytic uraemic syndromepanel. Source: UKGTN
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
CD46 was added to Atypical haemolytic uraemic syndromepanel. Source: Radboud University Medical Center, Nijmegen
CD46 was added to Atypical haemolytic uraemic syndromepanel. Sources: Eligibility statement prior genetic testing
CD46 was created by ellenmcdonagh