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Skeletal ciliopathies v4.3 KIAA0586 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: 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.
Skeletal ciliopathies v4.3 KIAA0586 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: KIAA0586.
Skeletal ciliopathies v4.3 KIAA0586 Achchuthan Shanmugasundram reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies v4.2 KIAA0586 Achchuthan Shanmugasundram 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)
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