Structural eye disease
Gene: KIAA0586
Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.Created: 19 Dec 2023, 8:52 p.m. | Last Modified: 19 Dec 2023, 8:53 p.m.
Panel Version: 3.65
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 23, OMIM:616490; Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546
As previously mentioned, PMID: 30055837 describes 2 unrelated cases of patients with different compound het variants in KIAA0586 who have coloboma
PMID: 36580738 report a patient with a homozygous frameshift variant (same variant seen in both patients in above paper) in this gene who has left microphthalmia
PMID: 28125082 describes two other patients with colobomaCreated: 24 Nov 2023, 11:18 a.m. | Last Modified: 24 Nov 2023, 11:18 a.m.
Panel Version: 3.58
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 23
Publications
KIAA0586 is associated with Joubert syndrome in OMIM and Gene2Phenotype. PMID:30055837 describes 2 unrelated cases of patients with different variants in KIAA0586 who have coloboma. Therefore, currently there are not enough cases for this gene to be promoted to green status.Created: 21 Jun 2019, 2:11 p.m. | Last Modified: 21 Jun 2019, 2:11 p.m.
Panel Version: 0.81
Publications
Gene: kiaa0586 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: KIAA0586 were changed from to Joubert syndrome 23, OMIM:616490; Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546
Publications for gene: KIAA0586 were set to 30055837
Mode of inheritance for gene: KIAA0586 was changed from to BIALLELIC, autosomal or pseudoautosomal
Tag Q4_23_promote_green tag was added to gene: KIAA0586. Tag Q4_23_NHS_review tag was added to gene: KIAA0586.
gene: KIAA0586 was added gene: KIAA0586 was added to Structural eye disease. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: KIAA0586 was set to Publications for gene: KIAA0586 were set to 30055837