Unexplained kidney failure in young people
Gene: CFIEnsemblGeneIds (GRCh38): ENSG00000205403
EnsemblGeneIds (GRCh37): ENSG00000205403
OMIM: 217030, Gene2Phenotype
CFI is in 7 panels
1 review
Sarah Leigh (Genomics England Curator)
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 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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- UKGTN
- Phenotypes
-
- Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923
- Complement factor I deficiency, OMIM:610984
- OMIM
- 217030
- Clinvar variants
- Variants in CFI
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: CFI was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q2_22_MOI was removed from gene: CFI.
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CFI were set to 15173250; 16621965;
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_22_MOI tag was added to gene: CFI.
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CFI were set to Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Sarah Leigh (Genomics England Curator)CFI was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)CFI was added to Unexplained kidney failure in young peoplepanel. Sources: UKGTN,Expert list,Illumina TruGenome Clinical Sequencing Services