Renal ciliopathies

Gene: KIAA0556

Red List (low evidence)

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

4 reviews

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

Phenotypes
Joubert syndrome 26

Publications

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

Phenotypes
?Joubert syndrome 26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • ?Joubert syndrome 26
Tags
new-gene-name
OMIM
616650
Clinvar variants
Variants in KIAA0556
Penetrance
None
Panels with this gene

History Filter Activity

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