Limb disorders
Gene: TCTN3Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 11:11 p.m.
Comment when marking as ready: Sufficient cases (>3) of polydactyly in patients with TCTN3 homozyous/compound het variants.Created: 15 Oct 2018, 3:49 p.m.
Comment on list classification: Updated rating from Red to Green: Confirmed DD-G2P gene for Orofaciodigital syndrome IV, 258860 (Mohr-Majewski syndrome) which can present with Polydactyly, Brachydactyly, Clinodactyly or Syndactyly. >3 polydactyly cases from multiple populations reported in consanguineous families in PMID:22883145. Multiple variants identified in this paper (homozgyous or compound heterozygous).Created: 15 Oct 2018, 3:47 p.m.
Thomas et al. 2012 (PMID:22883145) identified a nonsensense variant in TCTN3 in an aborted fetus born to a consanguineous Senegal family. Amongst other features, the fetus had polydactyly of four limbs and bowing of long bones with severe tibia hypoplasia. They identified 2 additional homozygous variants in three other fetuses (from Pakistan and Tunisia), all of whom displayed polydactyly (Table 1) together with bone defects including femoral bowing and club foot. They also reported compound heterozygous variants in 2 French fetal siblings with Orofaciodigital syndrome IV, 258860 including polydactyly. Additionally they report 2 Turkish siblings with Joubert syndrome (MIM:614815) and homozygous TCTN3 variants; one was reported with polydactyly.Created: 15 Oct 2018, 3:41 p.m.
Comment on mode of inheritance: Biallelic MOI supported by OMIM and Gene2Phenotype.Created: 15 Oct 2018, 3:40 p.m.
Tag curated_removed tag was added to gene: TCTN3.
Rebecca Foulger: Comment on mode of inheritance
Gene: tctn3 has been removed from the panel.
Source Expert Review Removed was added to TCTN3. Rating Changed from Green List (high evidence) to No List (delete)
Publications for gene: TCTN3 were set to
Gene: tctn3 has been classified as Green List (High Evidence).
Gene: tctn3 has been classified as Green List (High Evidence).
Phenotypes for gene: TCTN3 were changed from Polydactyly to Polydactyly; Joubert syndrome 18, 614815; Orofaciodigital syndrome IV, 258860
Mode of inheritance for gene: TCTN3 was changed from to BIALLELIC, autosomal or pseudoautosomal
TCTN3 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
TCTN3 was created by Ellen McDonagh