Ehlers Danlos syndromes
Gene: TNXBComment on list classification: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229)Created: 1 Jul 2020, 6:07 a.m. | Last Modified: 1 Jul 2020, 6:07 a.m.
Panel Version: 0.110
Association with classic Ehlers-Danlos syndrome is well-established (PMID:28306229;28306225).
Two families have also been described with Vesicoureteral Reflux caused by a heterozygous missense variant in this gene, some individuals were reported with asymptomatic joint hypermobility (PMID:23620400)
Sources: LiteratureCreated: 1 Jul 2020, 3:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408
Publications
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Classical-like EDS; Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 for gene: TNXB
gene: TNXB was added gene: TNXB was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNXB were set to Classical-like EDS; Ehlers-Danlos syndrome due to tenascin X deficiency, 606408