Neurological ciliopathiesGene: TXNDC15
Comment on list classification: Updated rating from Grey to Green: 3 Meckel-Gruber patients with 3 different TXNDC15 variants reported in PMID:27894351 (2 consanguineous Saudi and Pakistani) plus functional data (Patient fibroblasts had aberrant ciliogenesis). Helen Brittain confirms that sufficient variants and appropriate phenotype for inclusion on panel.
Created: 1 Nov 2018, 2:29 p.m.
Comment on mode of inheritance: Biallelic MOI supported by PMID:27894351.
Created: 16 Oct 2018, 3:54 p.m.
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: 16 Oct 2018, 3:47 p.m.
Individuals from two families reported within this paper with some functional data and a Meckel-Gruber phenotype. Probably merits Amber.
Created: 7 Aug 2018, 5:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
gene: TXNDC15 was added gene: TXNDC15 was added to Neurological ciliopathies. Sources: Expert Review Green 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 MGS; Meckel-Gruber syndrome