Proteinuria

Gene: FAT1

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

• 30862798
• 32902815

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

• 26905694

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