Unexplained young onset end-stage renal disease
Gene: CFI
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
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: 31 Jan 2023, 12:54 p.m. | Last Modified: 31 Jan 2023, 12:54 p.m.
Panel Version: 2.6
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, 2:59 p.m. | Last Modified: 7 Apr 2022, 2:59 p.m.
Panel Version: 1.34
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
Tag Q2_22_MOI was removed from gene: CFI.
Source NHS GMS was added to 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 612923 to Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923; Complement factor I deficiency, OMIM:610984
Publications for gene: CFI were set to 16621965; 15173250
Tag Q2_22_MOI tag was added to gene: CFI.
gene: CFI was added gene: CFI was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: CFI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CFI were set to 16621965; 15173250 Phenotypes for gene: CFI were set to Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923