Skeletal dysplasia

Gene: TCTN3

Green List (high evidence)

Cilliopathies with major skeletal involvement gp of SDs, green - multiple mutations; Review on behalf of Tracy Lester/Michael Oldridge

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 18 614815; Orofaciodigital syndrome IV 258860

Publications

• 22883145

I don't know

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: green

Created: 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.

Green List (high evidence)

Tier 2

Created: 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