Structural eye disease
Gene: KIAA0586

KIAA0586 (KIAA0586)
EnsemblGeneIds (GRCh38): ENSG00000100578
EnsemblGeneIds (GRCh37): ENSG00000100578
OMIM: 610178, Gene2Phenotype
KIAA0586 is in 15 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 1:56 p.m. | Last Modified: 2 May 2024, 1:56 p.m.

Panel Version: 3.79

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 2 May 2024, 1:56 p.m.
Last Modified: 2 May 2024, 1:56 p.m.
Panel version: 3.79

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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

Created: 19 Dec 2023, 8:49 p.m.
Last Modified: 19 Dec 2023, 8:53 p.m.
Panel version: 3.61

Hannah Knight (NIHR BioResource - University of Cambridge)

Green List (high evidence)

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 coloboma
Created: 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

Created: 24 Nov 2023, 11:18 a.m.
Last Modified: 24 Nov 2023, 11:18 a.m.
Panel version: 3.58

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

Publications

30055837

Created: 21 Jun 2019, 2:11 p.m.
Last Modified: 21 Jun 2019, 2:11 p.m.
Panel version: 0.81

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Expert list

Phenotypes

Joubert syndrome 23, OMIM:616490
Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546

OMIM

610178

Clinvar variants

Variants in KIAA0586

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 May 2024, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: KIAA0586. Tag Q4_23_NHS_review was removed from gene: KIAA0586.

2 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to KIAA0586. Source Expert Review Green was added to KIAA0586. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 Dec 2023, Gel status: 2