Thoracic dystrophies
Gene: TCTEX1D2EnsemblGeneIds (GRCh38): ENSG00000213123
EnsemblGeneIds (GRCh37): ENSG00000213123
OMIM: 617353, Gene2Phenotype
TCTEX1D2 is in 8 panels
5 reviews
Catherine Snow (Genomics England)
Added new-gene-name tag, new approved HGNC gene symbol for TCTEX1D2 is DYNLT2BCreated: 23 Feb 2021, 5:53 p.m. | Last Modified: 23 Feb 2021, 5:53 p.m.
Panel Version: 1.12
Melita Irving (Guy's and St Thomas' NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Jeune asphyxiating thoracic dystrophy
Publications
Hannah Mitchison (UCL and GOSH)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Jeune asphyxiating thoracic dystrophy
Publications
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Feedback from Hannah Mitchison that TCTEX1D2 should be green.Created: 31 May 2017, 8:27 a.m.
Rebecca Foulger (Genomics England curator)
Comment on list classification: 2 unrelated cases of TCTEX1D2 variants causing short-rib thoracic dysplasia (MIM:617405). Kept rating as red until more evidence becomes available.Created: 11 May 2017, 12:19 p.m.
PMID:26044572 (Schmidts et al., 2015) report 2 unrelated cases of TCTEX1D2 variants in short-rib thoracic dysplasia (MIM:617405) cases; A 5.5 year old boy from a consanguineous Turkish family contained a homozygous splice site mutation. A 3 year old French boy from a nonconsanguineous family contained an R88X substitution in compound heterozygosity with a deletion/insertion mutation (c.100delinsCT).Created: 11 May 2017, 12:18 p.m.
Added TCTEX1D2 to panel based on March 2017 OMIM updates.Created: 11 May 2017, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Jeune asphyxiating thoracic dystrophy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
- Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
- Jeune asphyxiating thoracic dystrophy
- JATD
- 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; Jeune Asphyxiating Thoracic Dystrophy to Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565; Jeune asphyxiating thoracic dystrophy; JATD
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TCTEX1D2 were set to Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Jeune Asphyxiating Thoracic Dystrophy
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Created
Rebecca Foulger (Genomics England curator)TCTEX1D2 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)TCTEX1D2 was added to Thoracic dystrophiespanel. Sources: Other