Limb disordersGene: TXNDC15
Comment on list classification: Adding this gene to the panel as it is has been removed from the skeletal ciliopathies panel as the skeletal phenotype is polydactyly only.
3 cases reported with polydactyly as part of the phenotype.
Created: 27 Nov 2019, 3:59 p.m. | Last Modified: 27 Nov 2019, 3:59 p.m.
Panel Version: 1.135
Comment from copied from skeletal ciliopathies panel:
Shaheen et al. 2016 (PMID:27894351) report TXNDC15 variants in two consanguineous Saudi families that share the features of Meckel-Gruber syndrome (a ciliopathy phenotype). Phenotypes of both patients included polydactyly; one patients was still born, and one survived till 11 hours old. Furthermore, through an international collaboration, they were able to identify an additional Meckel-Gruber syndrome patient (Pakistani origin) with a homozygous truncating variant in this gene. The patient also had polydactyly, although a sibling presented similarly but with no polydactyl. Patient fibroblasts had aberrant ciliogenesis.
Created: 27 Nov 2019, 3:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: txndc15 has been classified as Green List (High Evidence).
gene: TXNDC15 was added gene: TXNDC15 was added to Limb disorders. Sources: Other Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TXNDC15 were set to 27894351 Phenotypes for gene: TXNDC15 were set to Meckel-Gruber syndrome Review for gene: TXNDC15 was set to GREEN