Ophthalmological ciliopathiesGene: TCTN2
Comment on list classification: Promoted from red to green due to expert review and >3 unrelated cases in OMIM and different variants reported for Joubert syndrome. One family report for Meckel syndrome.
Created: 28 Aug 2016, 8:02 a.m.
On current diagnostic panel; positive families within patient cohort. Evidence from the literature.
Created: 16 Mar 2016, 12:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome, Meckel-Gruber syndrome
Variants in this GENE are reported as part of current diagnostic practice
gene: TCTN2 was added gene: TCTN2 was added to Ophthalmological ciliopathies. Sources: Other,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN2 were set to 25118024; 21565611 Phenotypes for gene: TCTN2 were set to Meckel syndrome; Joubert syndrome 24; Joubert syndrome, Meckel-Gruber syndrome