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Fetal anomalies

Gene: TCTEX1D2

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

3 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for TCTEX1D2 is DYNLT2B
Created: 23 Feb 2021, 5:55 p.m. | Last Modified: 23 Feb 2021, 5:55 p.m.
Panel Version: 1.628
Created: 23 Feb 2021, 5:55 p.m.
Last Modified: 23 Feb 2021, 5:55 p.m.
Panel version: 1.628

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 28 Jan 2021, 3:24 p.m. | Last Modified: 28 Jan 2021, 3:24 p.m.
Panel Version: 1.194
Created: 28 Jan 2021, 3:24 p.m.
Last Modified: 28 Jan 2021, 3:24 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Created: 28 Jan 2021, 12:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 17 with or without polydactyly

Created: 28 Jan 2021, 12:16 p.m.

Panel version: 1.185

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 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
Tags
new-gene-name
OMIM
617353
Clinvar variants
Variants in TCTEX1D2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: TCTEX1D2.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to TCTEX1D2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

23 Feb 2021, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

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

28 Jan 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TCTEX1D2 were set to

28 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

28 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

28 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tctex1d2 has been classified as Amber List (Moderate Evidence).

28 Jan 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: TCTEX1D2.

28 Jan 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: TCTEX1D2 was added gene: TCTEX1D2 was added to Fetal anomalies. Sources: Literature 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 Review for gene: TCTEX1D2 was set to GREEN