Renal ciliopathiesGene: KIAA0556
Added new-gene-name tag, new approved HGNC gene symbol for KIAA0556 is KATNIP
Created: 7 May 2020, 10:29 a.m. | Last Modified: 7 May 2020, 10:29 a.m.
Panel Version: 1.15
Two families reported in the literature, supportive zebrafish model; we have identified another case through our diagnostic laboratory (PMID: 29765138).
Created: 3 Jan 2020, 4:22 a.m. | Last Modified: 3 Jan 2020, 4:22 a.m.
Panel Version: 1.0
Joubert syndrome 26
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Only reported in one family
Created: 25 Jan 2017, 1:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
?Joubert syndrome 26
Tag new-gene-name tag was added to gene: KIAA0556.
gene: KIAA0556 was added gene: KIAA0556 was added to Renal ciliopathies. Sources: Other,Expert Review Red Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIAA0556 were set to ?Joubert syndrome 26