Structural eye disease
Gene: KIAA0556EnsemblGeneIds (GRCh38): ENSG00000047578
EnsemblGeneIds (GRCh37): ENSG00000047578
OMIM: 616650, Gene2Phenotype
KIAA0556 is in 7 panels
2 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: Promoting from grey to red as one case reported with structural eye phenotype but the individual also had a biallelic variant in KIF7.Created: 9 Sep 2022, 11:26 p.m. | Last Modified: 9 Sep 2022, 11:26 p.m.
Panel Version: 1.140
Samantha Malka (Moorfields Eye Hospital)
Niceta et al (2020) - published a case including coloboma with a patient with biallelic KIAA0556 mutations (patient also had biallelic mutations in KIF7)
Sources: LiteratureCreated: 2 Sep 2022, 11:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 26
Publications
- PMID: 32164589
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Joubert syndrome 26, OMIM:616784
- Joubert syndrome 26, MONDO:0014771
- Tags
- OMIM
- 616650
- Clinvar variants
- Variants in KIAA0556
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag new-gene-name tag was added to gene: KIAA0556.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: kiaa0556 has been classified as Red List (Low Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: KIAA0556 were changed from Joubert syndrome 26 to Joubert syndrome 26, OMIM:616784; Joubert syndrome 26, MONDO:0014771
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: KIAA0556 were set to PMID: 32164589
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Samantha Malka (Moorfields Eye Hospital)gene: KIAA0556 was added gene: KIAA0556 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0556 were set to PMID: 32164589 Phenotypes for gene: KIAA0556 were set to Joubert syndrome 26 Penetrance for gene: KIAA0556 were set to Complete Mode of pathogenicity for gene: KIAA0556 was set to Other Review for gene: KIAA0556 was set to RED