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| Unexplained young onset end-stage renal disease v3.3 | FAN1 | Eleanor Williams Phenotypes for gene: FAN1 were changed from interstitial nephritis; chronic kidney disease; Interstitial nephritis, karyomegalic 614817 to interstitial nephritis; chronic kidney disease; Interstitial nephritis, karyomegalic, OMIM:614817; karyomegalic interstitial nephritis, MONDO:0013898 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.2 | FAN1 | Eleanor Williams Publications for gene: FAN1 were set to 22772369 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.1 | FAN1 | Eleanor Williams commented on gene: FAN1: Mouse model data added by reviewer Yu Leng Phua provides functional data to support this gene-disease association from PMID: 35931300 Airik et al 2022. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v2.1 | FAN1 | Yu Leng Phua reviewed gene: FAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35931300; Phenotypes: interstitial nephritis, chronic kidney disease, Interstitial nephritis, karyomegalic 614817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.53 | FAN1 | Eleanor Williams Classified gene: FAN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.53 | FAN1 | Eleanor Williams Added comment: Comment on list classification: Sufficient cases to rate green for association with a relevant disease and presentation can be in young adults. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.53 | FAN1 | Eleanor Williams Gene: fan1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.52 | FAN1 |
Eleanor Williams gene: FAN1 was added gene: FAN1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review 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; Interstitial nephritis, karyomegalic 614817 Review for gene: FAN1 was set to GREEN Added comment: This gene was added to the 100,000 genomes project ' Unexplained kidney failure in young people' panel at the suggestion of external reviewer John Sayer. 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. Sources: Expert Review |
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