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Renal Ciliopathies and Nephronophthisis v0.288 | TCTN3 | Zornitza Stark Marked gene: TCTN3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.288 | TCTN3 | Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.288 | TCTN3 | Zornitza Stark Phenotypes for gene: TCTN3 were changed from to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Mohr-Majewski syndrome; Meckel-Gruber syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.287 | TCTN3 | Zornitza Stark Publications for gene: TCTN3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.286 | TCTN3 | Zornitza Stark Mode of inheritance for gene: TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.285 | TCTN3 | Zornitza Stark changed review comment from: Three unrelated families reported with JBTS phenotype. Variants in this gene are associated with other ciliopathies as well (OFD and Mohr-Majewski).; to: Variants in this gene are associated with a range of ciliopathies, but renal involvement reported in Mohr-Majewski and Meckel-Gruber presentations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.285 | TCTN3 | Zornitza Stark edited their review of gene: TCTN3: Changed publications: 22883145, 32139166, 25118024, 22883145, 34096792; Changed phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896, Mohr-Majewski syndrome, Meckel-Gruber syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.0 | TCTN3 |
Zornitza Stark gene: TCTN3 was added gene: TCTN3 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: TCTN3 was set to Unknown |