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Limb disorders v2.36 KIAA0586 Arina Puzriakova Tag curated_removed tag was added to gene: KIAA0586.
Limb disorders v0.313 KIAA0586 Eleanor Williams Classified gene: KIAA0586 as No list
Limb disorders v0.313 KIAA0586 Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.
Limb disorders v0.313 KIAA0586 Eleanor Williams Gene: kiaa0586 has been removed from the panel.
Limb disorders v0.278 KIAA0586 Eleanor Williams Source Expert Review Removed was added to KIAA0586.
Rating Changed from Green List (high evidence) to No List (delete)
Limb disorders v0.269 KIAA0586 Eleanor Williams Marked gene: KIAA0586 as ready
Limb disorders v0.269 KIAA0586 Eleanor Williams Gene: kiaa0586 has been classified as Green List (High Evidence).
Limb disorders v0.269 KIAA0586 Eleanor Williams Classified gene: KIAA0586 as Green List (high evidence)
Limb disorders v0.269 KIAA0586 Eleanor Williams Added comment: Comment on list classification: Rated green because three different variants have been reported in individuals presenting with a polydactyly phenotype as part of Joubert syndrome or Short-rib thoracic dysplasia 14 with polydactyly. 1 variant is thought to be a founder mutation but functional studies support this being the causative mutation.
Limb disorders v0.269 KIAA0586 Eleanor Williams Gene: kiaa0586 has been classified as Green List (High Evidence).
Limb disorders v0.268 KIAA0586 Eleanor Williams Deleted their comment
Limb disorders v0.268 KIAA0586 Eleanor Williams Phenotypes for gene: KIAA0586 were changed from Short-rib thoracic dysplasia 14 with polydactyly 616546; Polydactyly to Short-rib thoracic dysplasia 14 with polydactyly 616546; Polydactyly; Joubert syndrome 23 616490
Limb disorders v0.267 KIAA0586 Eleanor Williams Publications for gene: KIAA0586 were set to 26166481; 26437029
Limb disorders v0.266 KIAA0586 Eleanor Williams Classified gene: KIAA0586 as Green List (high evidence)
Limb disorders v0.266 KIAA0586 Eleanor Williams Gene: kiaa0586 has been classified as Green List (High Evidence).
Limb disorders v0.265 KIAA0586 Eleanor Williams Classified gene: KIAA0586 as Amber List (moderate evidence)
Limb disorders v0.265 KIAA0586 Eleanor Williams Added comment: Comment on list classification: Rating green as three different variants have been reported in individuals presenting with a polydactyly phenotype as part of Joubert syndrome or Short-rib thoracic dysplasia 14 with polydactyly.
Limb disorders v0.265 KIAA0586 Eleanor Williams Gene: kiaa0586 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.264 KIAA0586 Eleanor Williams commented on gene: KIAA0586: Associated with Joubert syndrome 23 and Short-rib thoracic dysplasia 14 with polydactyly in OMIM and Joubert syndrome in Gene2Phenotype.

4 families described in PMID: 26166481 for Short-rib thoracic dysplasia 14 with polydactyly. One family is a consanguineous Lebanese family in which 2 fetuses exhibited severe hydrocephaly, polydactyly, and skeletal abnormalities. A homozygous nonsense mutation was identified (S77X). They identified 3 further unrelated Eastern European families with cerebral anomalies, polydactyly, and long-bone shortening, including short ribs, who were all homozygous for the same splice site variant in KIAA0586 (c.1815G-A). Haplotype analysis of these 3 families was consistent with a common ancestor, estimated to have lived 16 generations (480 years) earlier.

Bachmann-Gagescu et al. (2015) (PMID: 26096313) identified homozygous or compound heterozygous mutations in the KIAA0586 gene in individuals with Joubert syndrome-23 from 9 unrelated families. Only 1 patient of Middle easter origin had polydactyly (D566V variant).

In summary, three different variants have been reported in individuals presenting with a polydactyly phenotype as part of Joubert syndrome or Short-rib thoracic dysplasia 14 with polydactyly.
Limb disorders v0.146 KIAA0586 Eleanor Williams commented on gene: KIAA0586
Limb disorders KIAA0586 Ellen McDonagh classified KIAA0586 as Amber List (moderate evidence)
Limb disorders KIAA0586 Ellen McDonagh Added gene to panel