Atypical haemolytic uraemic syndrome

Gene: CFI

The 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

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: CFI; Suggested initial gene rating: none provided;

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

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

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
aHUS

Publications

• PMID: 16621965
• 17597211
• 15173250

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 reported

Created: 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, 615439

Created: 15 Aug 2016, 11:02 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

• 17018561
• 10352206