Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v3.35 | FAN1 |
Aakash Joshi 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 Added comment: 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||