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 syndromes
R-numbers: R101
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers Danlos syndrome, type VIIC, 225410, Ehlers-Danlos Syndrome, Dermatosparaxis Type, Dermatosparaxis EDS, dEDS, EDSVIIC, EDS7C