Renal ciliopathiesGene: TCTN3
Comment on list classification: Promoted from red to green due to expert review and >3 unrelated cases in OMIM and different variants reported for orofaciodigital syndrome. 2 siblings with Joubert syndrome with a homozygous variant reported in OMIM, with additional cases reported in PMID: 25118024.
Created: 28 Aug 2016, 8:08 a.m.
On current diagnostic panel; no positive families in patient cohort to date. Evidence in literature.
Created: 16 Mar 2016, 12:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome; Orofaciodigital syndrome IV
Variants in this GENE are reported as part of current diagnostic practice
gene: TCTN3 was added gene: TCTN3 was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN3 were set to 25118024; 22883145 Phenotypes for gene: TCTN3 were set to Joubert syndrome; Orofaciodigital syndrome IV; Joubert syndrome 18; Meckel-Gruber; Mohr-Majewski syndrome