Skeletal ciliopathies

Gene: KIAA0586

Amber List (moderate evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 9 Jan 2024, 2:38 p.m. | Last Modified: 9 Jan 2024, 2:38 p.m.
Panel Version: 3.18
In addition to variants in KIAA0586 being associated with Joubert syndrome 23 (OMIM:616490). Three KIAA0586 variants have been seen in two unrelated cases of Short-rib thoracic dysplasia 14 with polydactyly (OMIM:616546)(PMID: 26166481; 32080096; 36538006), while a further KIAA0586 variant was seen in three Eastern European families, where haplotype analysis estimated the distance to the common ancestor was approximately 480 years (n ¼ 16 generations ago)(PMID: 26166481). All of the cases reported here were lethal either intra utero or within a month of birth, except for a fetus who was terminated due to a potentially poor prognosis after birth.
Created: 9 Jan 2024, 2:37 p.m. | Last Modified: 9 Jan 2024, 2:37 p.m.
Panel Version: 3.17

Zornitza Stark (Australian Genomics)

I don't know

Four unrelated families reported with a severe neurological/skeletal phenotype. However, note same variant identified in three of the families, indicative of founder effect. Gene is also associated with Joubert syndrome.
Sources: Expert list
Created: 24 May 2020, 11:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546

Publications

History Filter Activity

9 Jan 2024, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: KIAA0586.

9 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: kiaa0586 has been classified as Amber List (Moderate Evidence).

9 Jan 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: KIAA0586 were set to 26166481

9 Jan 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: KIAA0586 were changed from Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546 to Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546; short-rib thoracic dysplasia 14 with polydactyly, MONDO:0014688

9 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: kiaa0586 has been classified as Amber List (Moderate Evidence).

24 May 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: KIAA0586 was added gene: KIAA0586 was added to Skeletal ciliopathies. Sources: Expert list Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0586 were set to 26166481 Phenotypes for gene: KIAA0586 were set to Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546 Review for gene: KIAA0586 was set to AMBER