Genomics England
GMS Panels
Panels
Genes and Entities

VWA1

von Willebrand factor A domain containing 1
OMIM: 611901
PanelMode of inheritanceDetails
1 panel
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 3.24
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary motor, with myopathic features OMIM:619216, neuropathy, hereditary motor, with myopathic features MONDO:0030977