Polydactyly
Gene: TCTEX1D2

TCTEX1D2 (Tctex1 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000213123
EnsemblGeneIds (GRCh37): ENSG00000213123
OMIM: 617353, Gene2Phenotype
TCTEX1D2 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported, supportive functional data.
Created: 6 Jul 2021, 4:58 a.m. | Last Modified: 6 Jul 2021, 4:58 a.m.

Panel Version: 0.227

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 6 Jul 2021, 4:58 a.m.
Last Modified: 6 Jul 2021, 4:58 a.m.
Panel version: 0.227

Anand Vasudevan (Royal Women's Hospital)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 21 Jul 2020, 4:18 a.m.
Last Modified: 21 Jul 2020, 4:18 a.m.
Panel version: 0.36

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

617353

Clinvar variants

Variants in TCTEX1D2

Penetrance

None

Publications

Panels with this gene