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Tubulointerstitial kidney disease

Gene: FAN1

No list
FAN1 (FANCD2 and FANCI associated nuclease 1)
EnsemblGeneIds (GRCh38): ENSG00000198690
EnsemblGeneIds (GRCh37): ENSG00000198690
OMIM: 613534, Gene2Phenotype
FAN1 is in 3 panels

1 review

Aakash Joshi (St George's Hospital)

Green List (high evidence)

Biallelic variants in FAN1 have been established to be associated with a condition known as Karyomegalic tubulointerstitial nephritis (KMIN, OMIM #614817). A paper by Zhou (PMID 22772369) identified that 9 families with the KMIN had biallelic variants in FAN1. A more recent paper (PMCID 11920115) showed a further individual with KMIN had a panel which then identified a homozygous FAN1 variant. This gene is currently only on the Unexplained kidney failure in the young panel, but given the specific phenotype of progressive chronic interstitial nephritis it should be included in this panel.
Sources: Literature
Created: 19 Oct 2026, 11:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Interstitial fibrosis; chronic renal failure; tubulointerstitial nephritis

Publications

Created: 19 Oct 2026, 11:02 a.m.

Panel version: 3.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Interstitial fibrosis
  • chronic renal failure
  • tubulointerstitial nephritis
OMIM
613534
Clinvar variants
Variants in FAN1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Oct 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Aakash Joshi (St George's Hospital)

gene: FAN1 was added gene: FAN1 was added to Tubulointerstitial kidney disease. Sources: Literature Mode of inheritance for gene: FAN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAN1 were set to PMCID 11920115; PMID 22772369 Phenotypes for gene: FAN1 were set to Interstitial fibrosis; chronic renal failure; tubulointerstitial nephritis Penetrance for gene: FAN1 were set to Complete Review for gene: FAN1 was set to GREEN