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  2. Joubert syndrome and other neurological ciliopathies
  3. KIAA0556
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Joubert syndrome and other neurological ciliopathies

Gene: KIAA0556

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

5 individuals from two families reported, supportive mouse model.

New HGNC approved name is KATNIP.
Sources: Expert Review
Created: 17 Jul 2021, 7:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 26, MIM# 616784

Publications

Created: 17 Jul 2021, 7:32 a.m.

Panel version: 1.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Joubert syndrome 26, MIM# 616784
Tags
new gene name
OMIM
616650
Clinvar variants
Variants in KIAA0556
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kiaa0556 has been classified as Green List (High Evidence).

17 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kiaa0556 has been classified as Green List (High Evidence).

17 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIAA0556 was added gene: KIAA0556 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review new gene name tags were added to gene: KIAA0556. Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0556 were set to 26714646; 27245168 Phenotypes for gene: KIAA0556 were set to Joubert syndrome 26, MIM# 616784 Review for gene: KIAA0556 was set to GREEN