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| Renal ciliopathies v1.11 | ADAMTS9 | Catherine Snow Classified gene: ADAMTS9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.11 | ADAMTS9 |
Catherine Snow Added comment: Comment on list classification: Choi et al (PMID: 30609407) identified two unrelated individuals with ADAMTS9 variants (c.4575_4576del [p.Gln1525Hisfs∗60] and c.194C>G [p.Thr65Arg]) that appear to cause a Nephronophthisis-related ciliopathies (NPHP-RC) The study also included functional work and knockdown of adamts9 in zebrafish recapitulated the NPHP-RC phenotypes. Rating as Amber as only two individuals, where some clinical features differed between the two cases and although functional evidence present it is currently limited to this publication. |
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| Renal ciliopathies v1.11 | ADAMTS9 | Catherine Snow Gene: adamts9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.0 | ADAMTS9 |
Zornitza Stark gene: ADAMTS9 was added gene: ADAMTS9 was added to Renal ciliopathies. Sources: Expert list 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 Review for gene: ADAMTS9 was set to GREEN gene: ADAMTS9 was marked as current diagnostic Added comment: Two families reported with functional evidence Sources: Expert list |
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