Skeletal dysplasia
Gene: TCTEX1D2EnsemblGeneIds (GRCh38): ENSG00000213123
EnsemblGeneIds (GRCh37): ENSG00000213123
OMIM: 617353, Gene2Phenotype
TCTEX1D2 is in 8 panels
4 reviews
Catherine Snow (Genomics England)
Added 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
Tracy Lester (Genetics laboratory, Oxford UK)
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
Eleanor Williams (Genomics England Curator)
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.
Helen Brittain (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
- Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
- Tags
- OMIM
- 617353
- Clinvar variants
- Variants in TCTEX1D2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Catherine Snow (Genomics England)Tag new-gene-name tag was added to gene: TCTEX1D2.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set Phenotypes, Set publications
Eleanor Williams (Genomics England Curator)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
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to TCTEX1D2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Helen Brittain (Genomics England Curator)TCTEX1D2 was added to Unexplained skeletal dysplasiapanel. Sources: Literature
Created
Helen Brittain (Genomics England Curator)TCTEX1D2 was created by helen.brittain