Skeletal ciliopathies
Gene: KIAA0586
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
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
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 listCreated: 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
Tag Q4_23_promote_green was removed from gene: KIAA0586.
Source Expert Review Green was added to KIAA0586. Source NHS GMS was added to KIAA0586. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_23_promote_green tag was added to gene: KIAA0586.
Gene: kiaa0586 has been classified as Amber List (Moderate Evidence).
Publications for gene: KIAA0586 were set to 26166481
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
Gene: kiaa0586 has been classified as Amber List (Moderate Evidence).
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