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Renal Tubulointerstitial Disease
Gene: FAN1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypic overlap.

Well established gene-disease association. 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.
Sources: Expert Review
Created: 7 Feb 2020, 5:14 a.m. | Last Modified: 27 Oct 2021, 9:41 p.m.

Panel Version: 1.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Interstitial nephritis, karyomegalic, MIM# 614817

Publications

Created: 7 Feb 2020, 5:14 a.m.
Last Modified: 27 Oct 2021, 9:41 p.m.
Panel version: 1.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review

Phenotypes

Interstitial nephritis, karyomegalic, MIM# 614817

OMIM

Clinvar variants

Variants in FAN1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

27 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FAN1 were set to

27 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

7 Feb 2020, 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).

7 Feb 2020, 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).

7 Feb 2020, 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).

7 Feb 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAN1 was added gene: FAN1 was added to Renal Tubulointerstitial Disease. Sources: Expert Review Mode of inheritance for gene: FAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FAN1 were set to Interstitial nephritis, karyomegalic, MIM# 614817 Review for gene: FAN1 was set to GREEN