Rare multisystem ciliopathy disorders
Gene: TCTN3Comment 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
Phenotypes
Joubert syndrome; Orofaciodigital syndrome IV
Publications
Variants in this GENE are reported as part of current diagnostic practice
Promoted to version 1 by Alice Gardham on 26th January 2017
TCTN3 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
This gene has been classified as Green List (High Evidence).
Phenotypes for TCTN3 were set to Orofaciodigital syndrome IV;Joubert syndrome;Meckel-Gruber; Mohr-Majewski syndrome
Publications for TCTN3 were set to 25118024;22883145
This gene has been classified as Green List (High Evidence).
TCTN3 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
TCTN3 was created by ellenmcdonagh