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  3. TCTEX1D2
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Ductal plate malformation

Gene: TCTEX1D2

No list
TCTEX1D2 (Tctex1 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000213123
EnsemblGeneIds (GRCh37): ENSG00000213123
OMIM: 617353, Gene2Phenotype
TCTEX1D2 is in 8 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
  • Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
Tags
curated_removed
OMIM
617353
Clinvar variants
Variants in TCTEX1D2
Penetrance
None
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: TCTEX1D2.

28 Jan 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TCTEX1D2 were changed from Short-rib thoracic dysplasia 17 with or without polydactyly (617405) to Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565

30 Nov 2018, Gel status: 0

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Bill Griffiths: I have a patient with OFD1 and

12 Nov 2018, Gel status: 0

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Removed was added to TCTEX1D2. Rating Changed from Red List (low evidence) to No List (delete)

6 Nov 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: TCTEX1D2 was added gene: TCTEX1D2 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen 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)