Limb disorders

Gene: TCTEX1D2

Added new-gene-name tag, new approved HGNC gene symbol for TCTEX1D2 is DYNLT2B

Created: 23 Feb 2021, 5:53 p.m. | Last Modified: 23 Feb 2021, 5:53 p.m.

Panel Version: 2.36

Removed 'watchlist' tag as this gene has now been removed from this panel

Created: 28 Jan 2021, 3:32 p.m. | Last Modified: 28 Jan 2021, 3:32 p.m.

Panel Version: 2.32

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.

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.