Renal ciliopathies

Gene: KIAA0556

Red List (low evidence)

KIAA0556 (KIAA0556)
EnsemblGeneIds (GRCh38): ENSG00000047578
EnsemblGeneIds (GRCh37): ENSG00000047578
OMIM: 616650, Gene2Phenotype
KIAA0556 is in 5 panels

5 reviews

Eleanor Williams (Genomics England Curator)

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

Catherine Snow (Genomics England)

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

Zornitza Stark (Australian Genomics)

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

Alice Gardham (Genomics England)

Comment when marking as ready: Only reported in one family
Created: 25 Jan 2017, 1:17 p.m.

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

?Joubert syndrome 26


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Other
  • ?Joubert syndrome 26
Clinvar variants
Variants in KIAA0556
Panels with this gene

History Filter Activity

24 Jun 2020, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: KIAA0556 were set to

24 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: kiaa0556 has been classified as Red List (Low Evidence).

7 May 2020, Gel status: 1

Added Tag

Catherine Snow (Genomics England)

Tag new-gene-name tag was added to gene: KIAA0556.

10 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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