Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Tubulointerstitial kidney disease v0.3 | ADAMTS9 | Eleanor Williams reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: ; Publications: Choi et al Am J Hum Genet. 2019.104(1):45-54. PMID: 30609407; Phenotypes: Nephronophthisis-Related Ciliopathy (no OMIM number yet); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tubulointerstitial kidney disease v0.2 | ADAMTS9 |
Eleanor Williams gene: ADAMTS9 was added gene: ADAMTS9 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS9 were set to 30609407 Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy (no OMIM number yet) |