Genes in panel
STRs in panel
Prev Next

Structural eye disease

Gene: KIAA0586

Amber List (moderate evidence)

KIAA0586 (KIAA0586)
EnsemblGeneIds (GRCh38): ENSG00000100578
EnsemblGeneIds (GRCh37): ENSG00000100578
OMIM: 610178, Gene2Phenotype
KIAA0586 is in 17 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

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


History Filter Activity

21 Jun 2019, Gel status: 2

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

Ivone Leong (Genomics England Curator)

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