Ehlers Danlos syndromes

Gene: TNXB

Green List (high evidence)

TNXB (tenascin XB)
EnsemblGeneIds (GRCh38): ENSG00000168477
EnsemblGeneIds (GRCh37): ENSG00000168477
OMIM: 600985, Gene2Phenotype
TNXB is in 10 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment 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

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

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: Literature
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • International EDS Consortium
  • Expert Review Green
Phenotypes
  • Classical-like EDS
  • Ehlers-Danlos syndrome due to tenascin X deficiency, 606408
OMIM
600985
Clinvar variants
Variants in TNXB
Penetrance
None
Panels with this gene

History Filter Activity

30 Jun 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Added phenotypes Classical-like EDS; Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 for gene: TNXB

30 Jun 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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