Renal ciliopathiesGene: KIAA0556
Comment on list classification: Although there is evidence in that this variants in this gene are associated with Jouberts Syndrome there does not seem to be a strong renal phenotype, so leaving this gene rated as red for now.
Created: 24 Jun 2020, 5:06 p.m. | Last Modified: 24 Jun 2020, 5:06 p.m.
Panel Version: 1.18
PMID: 27245168 - Roosing et al 2016 - WES of a consanguineous Indian family with two siblings with Joubert syndrome identified a homozygous single base pair deletion leading to a frame shift and premature stop codon. However, kidney ultrasound of both sibling were normal. Zebrafish model supports a disease role for this gene, but again NO kidney phenotype was reported.
PMID: 26714646 - Sanders et al 2015 - report a multiplex consanguineous Saudi Arabian family with three children suffering from global developmental delay and suspected JBTS. NO renal phenotype reported.
PMID: 29765138 - Stark et al 2019 - phenotype information not given.
Created: 24 Jun 2020, 5:05 p.m. | Last Modified: 24 Jun 2020, 5:05 p.m.
Panel Version: 1.17
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
Publications for gene: KIAA0556 were set to
Gene: kiaa0556 has been classified as Red List (Low Evidence).
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