| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Tubulointerstitial kidney disease v0.11 | MAPKBP1 | Anna de Burca reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251; Phenotypes: NEPHRONOPHTHISIS 20; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.3 | MAPKBP1 | Eleanor Williams reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: Macia et al Am. J. Hum. Genet. 100: 323-333, 2017. PubMed: 28089251; Phenotypes: Nephronopthisis 20 MIM 6175271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.2 | MAPKBP1 |
Eleanor Williams gene: MAPKBP1 was added gene: MAPKBP1 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPKBP1 were set to 28089251 Phenotypes for gene: MAPKBP1 were set to Nephronopthisis 20 MIM 6175271 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||