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Skeletal ciliopathies v3.18 | KIAA0586 | Sarah Leigh Tag Q4_23_promote_green tag was added to gene: KIAA0586. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal ciliopathies v3.18 | KIAA0586 | Sarah Leigh Classified gene: KIAA0586 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal ciliopathies v3.18 | KIAA0586 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal ciliopathies v3.18 | KIAA0586 | Sarah Leigh Gene: kiaa0586 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal ciliopathies v3.17 | KIAA0586 | Sarah Leigh reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal ciliopathies v3.17 | KIAA0586 | Sarah Leigh Publications for gene: KIAA0586 were set to 26166481 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal ciliopathies v3.16 | KIAA0586 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal ciliopathies v3.15 | KIAA0586 | Sarah Leigh Classified gene: KIAA0586 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal ciliopathies v3.15 | KIAA0586 | Sarah Leigh Gene: kiaa0586 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal ciliopathies v1.3 | KIAA0586 |
Zornitza Stark 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 Added comment: 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 |