Atypical haemolytic uraemic syndrome
Gene: CFIThe mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:09 p.m. | Last Modified: 30 Jan 2023, 4:09 p.m.
Panel Version: 2.17
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: CFI; 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
Renal insufficiency, glomerulonephritis and pyelonephritis has been reported in Complement factor I deficiency (OMIM:610984)(PMID:17018561; 10352206), therefore it would be appropriate for the mode of inheritance to be changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal in this panel.Created: 7 Apr 2022, 2:52 p.m. | Last Modified: 7 Apr 2022, 2:52 p.m.
Panel Version: 2.11
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least six variants reportedCreated: 15 Aug 2016, 12:33 p.m.
Comment on phenotypes: Variants also reported in Complement factor I deficiency, 610984 and Macular degeneration, age-related, 13, susceptibility to, 615439Created: 15 Aug 2016, 11:02 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
Tag Q2_22_MOI was removed from gene: CFI.
Mode of inheritance for gene CFI was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CFI were changed from Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923; Complement factor I deficiency, OMIM:610984 to Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923; Complement factor I deficiency, OMIM:610984
Phenotypes for gene: CFI were changed from Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923; Complement factor I deficiency, OMIM:610984 to Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923; Complement factor I deficiency, OMIM:610984
Phenotypes for gene: CFI were changed from Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923 to Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923; Complement factor I deficiency, OMIM:610984
Publications for gene: CFI were set to 16621965; 17597211; 15173250; 23685748
Tag Q2_22_MOI tag was added to gene: CFI.
Phenotypes for gene: CFI were changed from Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923 to Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923
Source NHS GMS was added to CFI. 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).
Publications for CFI were set to 16621965; 17597211; 15173250; 23685748
Phenotypes for CFI were set to Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923
Mode of inheritance for CFI was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene CFI were set to Complement factor I deficiency, 610984; {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923; {Macular degeneration, age-related, 13, susceptibility to}, 615439;Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
CFI was added to Atypical haemolytic uraemic syndromepanel. Source: UKGTN
CFI was added to Atypical haemolytic uraemic syndromepanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene CFI was set to BIALLELIC, autosomal or pseudoautosomal
CFI was added to Atypical haemolytic uraemic syndromepanel. Source: Radboud University Medical Center, Nijmegen
CFI was added to Atypical haemolytic uraemic syndromepanel. Sources: Eligibility statement prior genetic testing
CFI was created by ellenmcdonagh