Unexplained kidney failure in young people
Gene: FAN1
Fan1 knockout mouse model studies showed that the phenotype of these mice is orthologous to the human DNA damage syndrome, karyomegalic interstitial nephritis (KIN). Inactivation of Fan1 in kidney proximal tubule cells sensitized the kidneys to genotoxic and obstructive injury characterized by replication stress and persistent DNA damage response activity.Created: 30 Nov 2022, 8:48 p.m. | Last Modified: 30 Nov 2022, 8:48 p.m.
Panel Version: 1.116
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
interstitial nephritis; chronic kidney disease; Interstitial nephritis, karyomegalic 614817
Publications
Comment on list classification: After consultation with the Genomics England clinical team, rating this gene green as relevant phenotype with onset in 20s-30s is appropriate for this panel.Created: 8 Nov 2019, 11:35 a.m. | Last Modified: 8 Nov 2019, 11:35 a.m.
Panel Version: 1.81
Comment on list classification: Downgrading from green to amber while consulting with the Genomics England clinical team as to the suitability of this gene as the age of onset for renal disease is from 30 year old onwards.Created: 6 Nov 2019, 4:41 a.m. | Last Modified: 6 Nov 2019, 4:41 a.m.
Panel Version: 1.80
Comment on list classification: More than 3 cases reported with plausible disease causing variants. Not found in small set on controls (96 individuals). Some functional data.Created: 24 Oct 2019, 3:32 p.m. | Last Modified: 24 Oct 2019, 3:32 p.m.
Panel Version: 1.74
FAN1 associated with Interstitial nephritis, karyomegalic #614817 (AR) in OMIM.
PMID: 22772369 - Zhou et al 2012 - 9 unrelated families with karyomegalic interstitial nephritis which can result in Chronic kidney disease. They identified 12 different homozygous or compound heterozygous mutations in the FAN1 gene. Eight of the 12 mutations resulted in a truncated protein. (Summary from OMIM). End-stage kidney failure ensued by a median age of 45 years in the 12 individuals with KIN and FAN1 mutations.
Sufficient cases with likely disease causing mutations to rate this gene green.Created: 24 Oct 2019, 3:19 p.m. | Last Modified: 6 Nov 2019, 4:33 a.m.
Panel Version: 1.78
Important recessive cause of karyomegalic interstitial NEPHRITIS. May mimic nephronophthisis
Sources: Expert listCreated: 22 Oct 2019, 12:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
interstitial nephritis; chronic kidney disease
Publications
Phenotypes for gene: FAN1 were changed from interstitial nephritis; chronic kidney disease to interstitial nephritis; chronic kidney disease; Interstitial nephritis, karyomegalic 614817
Gene: fan1 has been classified as Green List (High Evidence).
Gene: fan1 has been classified as Amber List (Moderate Evidence).
Gene: fan1 has been classified as Green List (High Evidence).
gene: FAN1 was added gene: FAN1 was added to Unexplained kidney failure in young people. Sources: Expert list Mode of inheritance for gene: FAN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAN1 were set to 22772369 Phenotypes for gene: FAN1 were set to interstitial nephritis; chronic kidney disease Penetrance for gene: FAN1 were set to Complete Review for gene: FAN1 was set to GREEN