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| Unexplained kidney failure in young people v1.116 | 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 kidney failure in young people v1.82 | FAN1 | Eleanor Williams Phenotypes for gene: FAN1 were changed from interstitial nephritis; chronic kidney disease to interstitial nephritis; chronic kidney disease; Interstitial nephritis, karyomegalic 614817 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.81 | FAN1 | Eleanor Williams Classified gene: FAN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.81 | FAN1 | Eleanor Williams Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.81 | FAN1 | Eleanor Williams Gene: fan1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.80 | FAN1 | Eleanor Williams Classified gene: FAN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.80 | FAN1 | Eleanor Williams Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.80 | FAN1 | Eleanor Williams Gene: fan1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.78 | FAN1 |
Eleanor Williams changed review comment from: 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). Sufficient cases with likely disease causing mutations to rate this gene green. ; to: 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. |
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| Unexplained kidney failure in young people v1.74 | FAN1 | Eleanor Williams Classified gene: FAN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.74 | FAN1 | Eleanor Williams Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.74 | FAN1 | Eleanor Williams Gene: fan1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.73 | FAN1 |
Eleanor Williams changed review comment from: 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). Sufficient cases with likely disease causing mutations to rate this gene green. ; to: 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). Sufficient cases with likely disease causing mutations to rate this gene green. |
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| Unexplained kidney failure in young people v1.73 | FAN1 |
Eleanor Williams changed review comment from: 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). Sufficient cases with likely disease causing mutations to rate this gene green.; to: 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). Sufficient cases with likely disease causing mutations to rate this gene green. |
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| Unexplained kidney failure in young people v1.73 | FAN1 | Eleanor Williams commented on gene: FAN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.73 | FAN1 |
John Sayer 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 Added comment: Important recessive cause of karyomegalic interstitial NEPHRITIS. May mimic nephronophthisis Sources: Expert list |
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