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Osteogenesis imperfecta

Gene: TNXB

Red List (low evidence)

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

3 reviews

Raymond Dalgleish (University of Leicester)

Red List (low evidence)

There are no known TNXB variants that cause OI. Some cases of Ehlers Danlos syndrome are caused by variants in this gene.
Created: 7 Feb 2018, 9:37 a.m.

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

There is no evidence to support a causal role of this gene in this particular disease
Created: 28 Sep 2015, 2:11 p.m.

History Filter Activity

8 Feb 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for TNXB were set to 26799614

23 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TNXB was added to Osteogenesis Imperfecta panel. Sources: Expert