Skeletal dysplasia
Gene: TCTN3
Cilliopathies with major skeletal involvement gp of SDs, green - multiple mutations; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 18 614815; Orofaciodigital syndrome IV 258860
Publications
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TCTN3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in G2P. At least five variants reported in Orofaciodigital syndrome IV 258860 and at least two in Joubert syndrome 18 614815.Created: 7 Jul 2016, 9:44 a.m.
Comment on list classification: Tier 2 gene for skeletal dysplasia (Ana Beleza)Created: 7 Jul 2016, 9:39 a.m.
Tier 2Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 18 614815; Orofaciodigital syndrome IV 258860
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Orofaciodigital syndrome IV 258860; Joubert syndrome 18 614815 for gene: TCTN3
Source NHS GMS was added to TCTN3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for TCTN3 were set to Joubert syndrome 18 614815; Orofaciodigital syndrome IV 258860
This gene has been classified as Green List (High Evidence).
Publications for TCTN3 were set to 22883145
This gene has been classified as Green List (High Evidence).
TCTN3 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
TCTN3 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
TCTN3 was created by anabeleza