Unexplained kidney failure in young people
Gene: CFIRenal 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 on this panel.Created: 7 Apr 2022, 2:38 p.m. | Last Modified: 7 Apr 2022, 2:42 p.m.
Panel Version: 1.108
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reportedCreated: 4 Aug 2016, 11:25 a.m.
Comment on phenotypes: Also associated with Complement factor I deficiency 610984 and {Macular degeneration, age-related, 13, susceptibility to} 615439Created: 4 Aug 2016, 11:25 a.m.
Comment on list classification: Tier 1 gene for Primary Membranoproliferative Glomeruloneprhistis in BRIDGE StudyCreated: 5 Jul 2016, 10:15 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
Mode of inheritance for gene: CFI was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q2_22_MOI was removed from 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; Complement factor I deficiency, OMIM:610984
Publications for gene: CFI were set to 15173250; 16621965;
Tag Q2_22_MOI tag was added to gene: CFI.
Promoted to version 1 17th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for CFI were set to Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
CFI was created by sleigh
CFI was added to Unexplained kidney failure in young peoplepanel. Sources: UKGTN,Expert list,Illumina TruGenome Clinical Sequencing Services