GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: TCTEX1D2

TCTEX1D2 (Tctex1 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000213123
EnsemblGeneIds (GRCh37): ENSG00000213123
OMIM: 617353, Gene2Phenotype
TCTEX1D2 is in 8 panels

2 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for TCTEX1D2 is DYNLT2B
Created: 23 Feb 2021, 5:54 p.m. | Last Modified: 23 Feb 2021, 5:54 p.m.

Panel Version: 0.32

Created: 23 Feb 2021, 5:54 p.m.
Last Modified: 23 Feb 2021, 5:54 p.m.
Panel version: 0.32

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

thoracic dysplasia. At least 3 families; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 17 with or without polydactyly, 617405

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Short-rib thoracic dysplasia 17 with or without polydactyly, 617405

Tags

new-gene-name

OMIM

617353

Clinvar variants

Variants in TCTEX1D2

Penetrance

None

Panels with this gene

History Filter Activity

23 Feb 2021, Gel status: 3

Added Tag

Catherine Snow (Genomics England)

Tag new-gene-name tag was added to gene: TCTEX1D2.

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: TCTEX1D2 was added gene: TCTEX1D2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTEX1D2 were set to Short-rib thoracic dysplasia 17 with or without polydactyly, 617405

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: TCTEX1D2