Genomics England
GMS Panels
Panels
Genes and Entities

ADAMTS2

ADAM metallopeptidase with thrombospondin type 1 motif 2
OMIM: 604539
PanelMode of inheritanceDetails
1 panel
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, dermatosparaxis type, OMIM:225410