Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Unexplained young onset end-stage renal disease v0.42 | MKKS | Moin Saleem reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v0.41 | MKKS | Eleanor Williams reviewed gene: MKKS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v0.40 | MKKS |
Eleanor Williams gene: MKKS was added gene: MKKS was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MKKS were set to 10802661; 10973238; 10973251 Phenotypes for gene: MKKS were set to Bardet Biedl syndrome 6; 236700 |