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Limb disorders

Gene: TCTN3

No list

TCTN3 (tectonic family member 3)
EnsemblGeneIds (GRCh38): ENSG00000119977
EnsemblGeneIds (GRCh37): ENSG00000119977
OMIM: 613847, Gene2Phenotype
TCTN3 is in 20 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment 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.

Rebecca Foulger (Genomics England curator)

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.

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Rebecca Foulger: Comment on mode of inheritance

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: tctn3 has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Removed was added to TCTN3. Rating Changed from Green List (high evidence) to No List (delete)

15 Oct 2018, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TCTN3 were set to

15 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tctn3 has been classified as Green List (High Evidence).

15 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tctn3 has been classified as Green List (High Evidence).

15 Oct 2018, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TCTN3 were changed from Polydactyly to Polydactyly; Joubert syndrome 18, 614815; Orofaciodigital syndrome IV, 258860

15 Oct 2018, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: TCTN3 was changed from to BIALLELIC, autosomal or pseudoautosomal

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TCTN3 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

TCTN3 was created by Ellen McDonagh