Arina Puzriakova Phenotypes for gene: TCTEX1D2 were changed from Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Jeune asphyxiating thoracic dystrophy; JATD 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
Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green. 2 Green reviews plus sufficient unrelated cases of ciliogenesis phenotypes (PMIDs:26044572, 28475963). Role in ciliogenesis supported by functional assays and zebrafish model (PMID:26044572).
Rebecca Foulger commented on gene: TCTEX1D2: Zebrafish ciliopathy model demonstrated in PMID:26044572 and functional evidence that loss of TCTEX1D2 impairs retrograde intraflagellar transport in humans.
Rebecca Foulger commented on gene: TCTEX1D2: PMID:26044572 (Schmidts et al 2015) performed whole exome sequencing of 69 individuals from 60 families clinically diagnosed with JATD, and identified a homozygous consensus splice variant (c.113+2C>G) in TCTEX1D2 from a consanguineous Turkish family plus a >10-kb homozygous deletion in two affected siblings (UCL4 II.6 and II.8) from a consanguineous Arabic family that removes exon 1–2 of TCTEX1D2. Additional analysis of further JATD/SRPS cases found a compound heterozygous TCTEX1D2 variant in a non-consanguineous French family comprisimng a nonsense (c.262C>T; p.Arg88*) and a deletion-insertion frameshift (c.100delinsCT; p.Val34Leufs*12).
Rebecca Foulger commented on gene: TCTEX1D2: Zschocke et al 2017 (PMID:28475963) identified two siblings from a consanguineous Turkish family with defects suggestive of ciliary dysfunction (the girl who died in utero likely had Jeune syndrome). Exome sequencing identified a homozygous intragenic deletion in TCTEX1D2. Ciliary function tests showed mild irregulatories of motile cilia.
Rebecca Foulger Phenotypes for gene: TCTEX1D2 were changed from Jeune ATD to Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Jeune asphyxiating thoracic dystrophy; JATD
Rebecca Foulger Mode of inheritance for gene: TCTEX1D2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Andrea Nemeth reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25830415, 26044572, 28475963; Phenotypes: Jeune asphyxiating thoracic dystrophy, short ribs, polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal