Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Unexplained young onset end-stage renal disease v0.2 | FREM1 | Eleanor Williams reviewed gene: FREM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v0.1 | FREM1 |
Eleanor Williams gene: FREM1 was added gene: FREM1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FREM1 were set to PMID: 24700879 Phenotypes for gene: FREM1 were set to Bifid nose with or without anorectal and renal anomalies, 608980 |