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  2. Skeletal Dysplasia_Fetal
  3. TCTEX1D2
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Skeletal Dysplasia_Fetal

Gene: TCTEX1D2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported, supportive functional data.
Created: 6 Jul 2021, 4:56 a.m. | Last Modified: 6 Jul 2021, 4:56 a.m.
Panel Version: 0.92

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 6 Jul 2021, 4:56 a.m.
Last Modified: 6 Jul 2021, 4:56 a.m.
Panel version: Imported from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy panel version 0.92

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
OMIM
617353
Clinvar variants
Variants in TCTEX1D2
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TCTEX1D2 was added gene: TCTEX1D2 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TCTEX1D2 was set to Unknown