Genomics England
GMS Panels
Panels
Genes and Entities

SMPX

small muscle protein, X-linked
OMIM: 300226
PanelMode of inheritanceDetails
1 panel
Green
in Monogenic hearing loss
R-numbers: R67
Signed-off version 3.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Nonsyndromic Hearing Loss, X-Linked, Deafness, X-linked 4, 300066, hearing loss