| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v0.9510 | FAN1 | Zornitza Stark Marked gene: FAN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9510 | FAN1 | Zornitza Stark Gene: fan1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9510 | FAN1 | Zornitza Stark Phenotypes for gene: FAN1 were changed from to Interstitial nephritis, karyomegalic, MIM# 614817 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9509 | FAN1 | Zornitza Stark Publications for gene: FAN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9508 | FAN1 | Zornitza Stark Mode of inheritance for gene: FAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9507 | FAN1 | Zornitza Stark reviewed gene: FAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22772369, 16678356, 7847351, 8546134; Phenotypes: Interstitial nephritis, karyomegalic, MIM# 614817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7172 | FAT1 |
Ee Ming Wong changed review comment from: - 5 consanguineous families with homozygous frameshift mutations in FAN1 - FAN1 KO mice had microphthalmia, with fully penetrant coloboma which was not observed in heterozygous mice - in human retinal pigment epithelium (RPE) cells, FAN1 knockdown resulted in compromised early cell-cell junction integrity and filament organisation; to: - 5 consanguineous families with homozygous frameshift mutations in FAT1 - FAT1 KO mice had microphthalmia, with fully penetrant coloboma which was not observed in heterozygous mice - in human retinal pigment epithelium (RPE) cells, FAT1 knockdown resulted in compromised early cell-cell junction integrity and filament organisation |
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| Mendeliome v0.3049 | FAN1 | Elena Savva reviewed gene: FAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22772369; Phenotypes: Interstitial nephritis, karyomegalic 614817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2861 | FAT1 |
Ee Ming Wong changed review comment from: - 5 consanguineous families with homozygous frameshift mutations in FAN1 - FAN1 KO mice had microphthalmia, with fully penetrant coloboma which was not observed in heterozygous mice - in human retinal pigment epithelium (RPE) cells, FAN1 knockdown resulted in compromised early cell-cell junction integrity and filament organisation; to: - 5 consanguineous families with homozygous frameshift mutations in FAN1 - FAN1 KO mice had microphthalmia, with fully penetrant coloboma which was not observed in heterozygous mice - in human retinal pigment epithelium (RPE) cells, FAN1 knockdown resulted in compromised early cell-cell junction integrity and filament organisation |
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| Mendeliome v0.0 | FAN1 |
Zornitza Stark gene: FAN1 was added gene: FAN1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FAN1 was set to Unknown |
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