Thoracic dystrophies
Gene: TCTEX1D2Added 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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Jeune asphyxiating thoracic dystrophy
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Jeune asphyxiating thoracic dystrophy
Publications
Comment on list classification: Feedback from Hannah Mitchison that TCTEX1D2 should be green.Created: 31 May 2017, 8:27 a.m.
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
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; 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
31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
This gene has been classified as Green List (High Evidence).
Phenotypes for TCTEX1D2 were set to Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Jeune Asphyxiating Thoracic Dystrophy
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
TCTEX1D2 was created by rfoulger
TCTEX1D2 was added to Thoracic dystrophiespanel. Sources: Other