| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Proteinuria v0.159 | FAT1 |
Ee Ming Wong changed review comment from: - Four affected individuals who are homozygous or compound heterozgous carriers of a FAN1 variant - Fibroblasts from a homozygous FAN1 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.; to: - 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. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.138 | FAT1 | Zornitza Stark Publications for gene: FAT1 were set to 30862798; 26905694 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.137 | FAT1 | Zornitza Stark changed review comment from: Another 5 families reported.; to: Another 5 families reported with syndromic proteinuria. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.137 | FAT1 | Zornitza Stark edited their review of gene: FAT1: Added comment: PMID 32902815: bi-allelic variants in association with proteinuria and no syndromic features reported.; Changed publications: 30862798, 32902815 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.112 | FAT1 | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.112 | FAT1 | Zornitza Stark edited their review of gene: FAT1: Added comment: Another 5 families reported.; Changed rating: GREEN; Changed publications: 30862798; Changed phenotypes: facial dysmorphism, colobomatous microphthalmia, ptosis, syndactyly with or without nephropathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.112 | FAT1 | Zornitza Stark Marked gene: FAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.112 | FAT1 | Zornitza Stark Added comment: Comment when marking as ready: Five families reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.112 | FAT1 | Zornitza Stark Gene: fat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.112 | FAT1 | Zornitza Stark Phenotypes for gene: FAT1 were changed from to facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.111 | FAT1 | Zornitza Stark Publications for gene: FAT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.110 | FAT1 | Zornitza Stark Mode of inheritance for gene: FAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.109 | FAT1 | Ee Ming Wong reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26905694; Phenotypes: SRNS, tubular ectasia, haematuria, facultative neurological involvement; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.0 | FAT1 |
Zornitza Stark 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||