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Renal Ciliopathies and Nephronophthisis v0.219 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Renal Ciliopathies and Nephronophthisis v0.219 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.219 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from to Senior-Loken syndrome 6, MIM# 610189
Renal Ciliopathies and Nephronophthisis v0.218 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Renal Ciliopathies and Nephronophthisis v0.217 CEP290 Zornitza Stark Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.216 CEP290 Zornitza Stark changed review comment from: Variants in this gene cause a range of ciliopathies. The association with BBS is rare.; to: Variants in this gene cause a range of ciliopathies, including Senior-Loken syndrome/nephronophthisis.
Renal Ciliopathies and Nephronophthisis v0.216 CEP290 Zornitza Stark edited their review of gene: CEP290: Changed publications: 18327255, 20690115, 16682973, 32208788; Changed phenotypes: Senior-Loken syndrome 6, MIM# 610189
Renal Ciliopathies and Nephronophthisis v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP290 was set to Unknown