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  3. KIAA0556
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Rare multisystem ciliopathy disorders

Gene: KIAA0556

Red List (low evidence)
KIAA0556 (KIAA0556)
EnsemblGeneIds (GRCh38): ENSG00000047578
EnsemblGeneIds (GRCh37): ENSG00000047578
OMIM: 616650, Gene2Phenotype
KIAA0556 is in 7 panels

3 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for KIAA0556 is KATNIP
Created: 7 May 2020, 10:28 a.m. | Last Modified: 7 May 2020, 10:28 a.m.
Panel Version: 1.124
Created: 7 May 2020, 10:28 a.m.
Last Modified: 7 May 2020, 10:28 a.m.
Panel version: 1.124

Alice Gardham (Genomics England)

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

Panel version: 0.471

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Joubert syndrome 26

Created: 25 Nov 2016, 5:01 p.m.

Panel version: 0.310

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Joubert syndrome 26, OMIM:616784
  • Joubert syndrome 26, MONDO:0014771
Tags
new-gene-name
OMIM
616650
Clinvar variants
Variants in KIAA0556
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Oct 2025, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KIAA0556 were changed from ?Joubert syndrome 26 to Joubert syndrome 26, OMIM:616784; Joubert syndrome 26, MONDO:0014771

7 May 2020, Gel status: 1

Added Tag

Catherine Snow (Genomics England)

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

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

25 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

25 Nov 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KIAA0556 was added to Rare multisystem ciliopathy disorderspanel. Sources: Other

25 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KIAA0556 was created by ellenmcdonagh