Genomics England
GMS Panels
Panels
Genes and Entities

TNXB

tenascin XB
OMIM: 600985
PanelMode of inheritanceDetails
2 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome due to tenascin X deficiency, 606408, significant bruising/haematomas
Green
in Ehlers Danlos syndrome with a likely monogenic cause
R-numbers: R101
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, classic-like, 1, OMIM:606408