Rare multisystem ciliopathy disorders
Gene: TCTN1Comment 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
Phenotypes
Joubert syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for TCTN1 were set to 20301500; 21725307; 22693042; 26477546; 26489806;28631893
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Green List (High Evidence).
Phenotypes for TCTN1 were set to Joubert syndrome
Publications for TCTN1 were set to 20301500; 21725307; 22693042;26477546;26489806
This gene has been classified as Green List (High Evidence).
TCTN1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
TCTN1 was created by ellenmcdonagh