Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.90 | GRIP1 | Achchuthan Shanmugasundram Phenotypes for gene: GRIP1 were changed from Fraser syndrome; isolated CAKUT; Fraser syndrome 219000 to Fraser syndrome 3, OMIM:617667 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | GRIP1 |
Achchuthan Shanmugasundram Added phenotypes Fraser syndrome; isolated CAKUT; Fraser syndrome 219000 for gene: GRIP1 Publications for gene: GRIP1 were updated from 24700879; 14730302; 24357607; 22510445 to 14730302; 24357607; 24700879; 22510445 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | GRIP1 | Achchuthan Shanmugasundram reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.51 | GRIP1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.51 | GRIP1 |
Achchuthan Shanmugasundram gene: GRIP1 was added gene: GRIP1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: GRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRIP1 were set to 24700879; 14730302; 24357607; 22510445 Phenotypes for gene: GRIP1 were set to Fraser syndrome 219000; Fraser syndrome; isolated CAKUT |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||