Proteinuria
Gene: FAT1
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
- 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
Publications for gene: FAT1 were set to 30862798; 26905694
Gene: fat1 has been classified as Green List (High Evidence).
Phenotypes for gene: FAT1 were changed from to facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy
Publications for gene: FAT1 were set to
Mode of inheritance for gene: FAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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