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Renal Ciliopathies and Nephronophthisis v2.0 KIAA0586 Gene migrated from ENSG00000100578 to ENSG00000100578 (gene set migration)
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from to Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546; Joubert syndrome 23, MIM# 616490
Renal Ciliopathies and Nephronophthisis v0.254 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to
Renal Ciliopathies and Nephronophthisis v0.253 KIAA0586 Zornitza Stark Mode of inheritance for gene: KIAA0586 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.252 KIAA0586 Zornitza Stark Classified gene: KIAA0586 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.252 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0586 Zornitza Stark changed review comment from: 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.; to: Multiple families reported with JBTS/ATD phenotype. Renal involvement not reported.
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0586 Zornitza Stark edited their review of gene: KIAA0586: Changed rating: RED
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0586 Zornitza Stark edited their review of gene: KIAA0586: Changed publications: 26166481, 26096313, 29146704
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0586 Zornitza Stark edited their review of gene: KIAA0586: Changed rating: GREEN; Changed publications: 26166481, 26096313; Changed phenotypes: Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546, Joubert syndrome 23, MIM# 616490
Renal Ciliopathies and Nephronophthisis v0.0 KIAA0586 Zornitza Stark gene: KIAA0586 was added
gene: KIAA0586 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: KIAA0586 was set to Unknown