Genomics England
GMS Panels
Panels
Genes and Entities

SH3TC2

SH3 domain and tetratricopeptide repeats 2
OMIM: 608206
PanelMode of inheritanceDetails
1 panel
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 4.11
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4C, OMIM:601596, Mononeuropathy of the median nerve, mild, OMIM:613353