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  3. FAN1
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Renal Ciliopathies and Nephronophthisis

Gene: FAN1

Green List (high evidence)
FAN1 (FANCD2 and FANCI associated nuclease 1)
EnsemblGeneIds (GRCh38): ENSG00000198690
EnsemblGeneIds (GRCh37): ENSG00000198690
OMIM: 613534, Gene2Phenotype
FAN1 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Karyomegalic tubulointerstitial nephritis (KMIN) is a rare kidney disease characterized clinically by onset in the third decade of progressive renal failure. Renal biopsy shows chronic tubulointerstitial nephritis and interstitial fibrosis associated with enlarged and atypical tubular epithelial cell nuclei
Created: 27 Oct 2021, 9:39 p.m. | Last Modified: 27 Oct 2021, 9:39 p.m.
Panel Version: 1.2

Phenotypes
Interstitial nephritis, karyomegalic, MIM# 614817

Created: 27 Oct 2021, 9:38 p.m.
Last Modified: 27 Oct 2021, 9:38 p.m.
Panel version: 1.2

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Sources: Expert list
Created: 27 Nov 2019, 11:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Interstitial nephritis, karyomegalic

Publications

Created: 27 Nov 2019, 11:17 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Interstitial nephritis, karyomegalic, MIM# 614817
OMIM
613534
Clinvar variants
Variants in FAN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FAN1 were changed from Interstitial nephritis, karyomegalic to Interstitial nephritis, karyomegalic, MIM# 614817

23 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fan1 has been classified as Green List (High Evidence).

23 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fan1 has been classified as Green List (High Evidence).

27 Nov 2019, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: FAN1 was added gene: FAN1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert list Mode of inheritance for gene: FAN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAN1 were set to PubMed: 22772369; 16678356; 7847351; 8546134 Phenotypes for gene: FAN1 were set to Interstitial nephritis, karyomegalic Review for gene: FAN1 was set to GREEN