Neurological ciliopathiesGene: TCTN1
Comment on list classification: 2 sisters with a homozygous variant reported in PMID: 21725307, a compound heterozygous case reported in PMID:26477546, a compound heterozygous case reported in PMID: 26489806. Promoted from red to green due to expert review and published cases.
Created: 28 Aug 2016, 7:59 a.m.
On current diagnostic panel; positive families within patient cohort. Evidence from the literature.
Created: 16 Mar 2016, 11:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
gene: TCTN1 was added gene: TCTN1 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN1 were set to 20301500; 22693042; 26489806; 21725307; 26477546; 28631893 Phenotypes for gene: TCTN1 were set to Joubert syndrome