1. Panels
  2. Aortopathy_Connective Tissue Disorders
  3. TNXB
STRs in panel
Prev Next
Regions in panel
Prev Next

Aortopathy_Connective Tissue Disorders

Gene: TNXB

Green List (high evidence)
TNXB (tenascin XB)
EnsemblGeneIds (GRCh38): ENSG00000168477
EnsemblGeneIds (GRCh37): ENSG00000168477
OMIM: 600985, Gene2Phenotype
TNXB is in 9 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
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

Created: 1 Jul 2020, 3:20 a.m.

Panel version: 0.96

History Filter Activity

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tnxb has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tnxb has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: TNXB was added gene: TNXB was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNXB were set to 28306229; 28306225; 23620400 Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408 Review for gene: TNXB was set to GREEN gene: TNXB was marked as current diagnostic