Skeletal dysplasia
Gene: TCTEX1D2Added new-gene-name tag, new approved HGNC gene symbol for TCTEX1D2 is DYNLT2BCreated: 23 Feb 2021, 5:55 p.m. | Last Modified: 23 Feb 2021, 5:55 p.m.
Panel Version: 2.83
thoracic dysplasia. At least 3 families; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 17 with or without polydactyly, 617405
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: TCTEX1D2; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Three unrelated cases, however one was a homozygous deletion not restricted to this gene. This was reported to display incomplete penetrance. The other two cases were homozygous / compound het truncation/frameshift mutations. In view of PMID 25830415 showing independent evidence of the role of this gene in ciliary development and IFT, and two+ cases, the evidence seems sufficient for inclusion.Created: 16 May 2017, 12:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 17 with or without polydactyly, 617405
Publications
Tag new-gene-name tag was added to gene: TCTEX1D2.
Phenotypes for gene: TCTEX1D2 were changed from Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 to Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
Added phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 for gene: TCTEX1D2 Publications for gene TCTEX1D2 were changed from 26044572; 25830415 to 26044572; 25830415
Source NHS GMS was added to TCTEX1D2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
TCTEX1D2 was added to Unexplained skeletal dysplasiapanel. Sources: Literature
TCTEX1D2 was created by helen.brittain