Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Limb disorders

Gene: TCTEX1D2

No list

TCTEX1D2 (Tctex1 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000213123
EnsemblGeneIds (GRCh37): ENSG00000213123
OMIM: 617353, Gene2Phenotype
TCTEX1D2 is in 6 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.
Created: 2 Dec 2018, 11:10 p.m.

Rebecca Foulger (Genomics England curator)

Added 'watchlist' tag.
Created: 11 Oct 2018, 10:44 a.m.
Comment on list classification: Updated rating from Red to Amber: Two cases (PMID:26044572) presenting with polydactyly and/or brachydactyly as part of Short-rib thoracic dysplasia. A further case in the same paper removes part of the TM4SF19 gene in addition to part of the TCTEX1D2 gene. Therefore require further evidence of TCTEX1D2 variants causing limb phenotype before rating Green.
Created: 11 Oct 2018, 10:43 a.m.
In a third family (UCL4) reported by Schmidts et al. (2015, PMID:26044572), 3 affected sibs were homozygous for a more than 10-kb deletion removing the start codon and exons 1 and 2 of the TCTEX1D2 gene (and exons 2-5 of the neighbouring TM4SF19 gene). The deletion was also detected in 2 apparently unaffected sibs, indicating reduced penetrance. Some members of this family showed mild brachydactyly.
Created: 11 Oct 2018, 10:42 a.m.
In affected children from a Turkish family (UCL82) and a French family (INS) with short-rib thoracic dysplasia (MIM:617405), Schmidts et al. (2015, PMID:26044572) identified homozygosity or compound heterozygosity for loss-of-function variants in TCTEX1D2. The Turkish patient had polydactyly of the hand and foot. The French patient didn't show polydactyly but had brachydactyly.
Created: 11 Oct 2018, 10:42 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Short-rib thoracic dysplasia 17 with or without polydactyly, 617405
  • Brachydactyly
Tags
watchlist
OMIM
617353
Clinvar variants
Variants in TCTEX1D2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Rebecca Foulger: In affected children from a Tu

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: tctex1d2 has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

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

15 Oct 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: TCTEX1D2 was changed from to BIALLELIC, autosomal or pseudoautosomal

11 Oct 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

11 Oct 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: TCTEX1D2.

11 Oct 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

11 Oct 2018, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TCTEX1D2 were set to

11 Oct 2018, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TCTEX1D2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

TCTEX1D2 was created by Ellen McDonagh