Proteinuria

Gene: FAT1

Green List (high evidence)

FAT1 (FAT atypical cadherin 1)
EnsemblGeneIds (GRCh38): ENSG00000083857
EnsemblGeneIds (GRCh37): ENSG00000083857
OMIM: 600976, Gene2Phenotype
FAT1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 32902815: bi-allelic variants in association with proteinuria and no syndromic features reported.
Created: 4 Oct 2020, 8:58 p.m. | Last Modified: 4 Oct 2020, 8:58 p.m.
Panel Version: 0.137
Another 5 families reported with syndromic proteinuria.
Created: 22 May 2020, 9:36 a.m. | Last Modified: 4 Oct 2020, 8:58 p.m.
Panel Version: 0.137

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy

Publications

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- Four affected individuals who are homozygous or compound heterozgous carriers of a FAT1 variant
- Fibroblasts from a homozygous FAT1 carriers demonstrated loss of FAN1 protein and decreased cell migration rate compared to WT control cells.
- Fat1 knockdown in renal tubular cells reduces migration and results in defective lumen formation. Knockdown of fat1 in zebrafish results in pronephric cysts.
Created: 22 May 2020, 3:36 a.m. | Last Modified: 14 Apr 2021, 5:13 a.m.
Panel Version: 0.159

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SRNS; tubular ectasia; haematuria; facultative neurological involvement

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • facial dysmorphism
  • colobomatous microphthalmia
  • ptosis
  • syndactyly with or without nephropathy
OMIM
600976
Clinvar variants
Variants in FAT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FAT1 were set to 30862798; 26905694

22 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fat1 has been classified as Green List (High Evidence).

22 May 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FAT1 were changed from to facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy

22 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FAT1 were set to

22 May 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAT1 was added gene: FAT1 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FAT1 was set to Unknown