Skeletal ciliopathies

Gene: KIAA0586

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: 4 May 2024, 3:45 p.m. | Last Modified: 4 May 2024, 3:48 p.m.

Panel Version: 4.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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

• 26166481