Genomics England
GMS Panels
Panels
Genes and Entities

EMILIN1

elastin microfibril interfacer 1
OMIM: 130660
PanelMode of inheritanceDetails
1 panel
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.163
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuronopathy, distal hereditary motor, autosomal dominant 10, OMIM:620080