Structural eye disease
Gene: KIAA0556Comment 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
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
Mode of pathogenicity
Other
Gene: kiaa0556 has been classified as Red List (Low Evidence).
Phenotypes for gene: KIAA0556 were changed from Joubert syndrome 26 to Joubert syndrome 26, OMIM:616784; Joubert syndrome 26, MONDO:0014771
Publications for gene: KIAA0556 were set to PMID: 32164589
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