Renal ciliopathiesGene: ADAMTS9
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.
Created: 30 Mar 2020, 4:09 p.m. | Last Modified: 30 Mar 2020, 4:09 p.m.
Panel Version: 1.11
Two families reported with functional evidence
Sources: Expert list
Created: 22 Jan 2020, 2:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Gene: adamts9 has been classified as Amber List (Moderate Evidence).
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