Genomics England
GMS Panels
Panels
Genes and Entities

SMPX

small muscle protein, X-linked
OMIM: 300226
PanelMode of inheritanceDetails
2 panels
Green
in Distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Myopathy, distal, 7, adult-onset, X-linked, OMIM:301075, myopathy, distal, 7, adult-onset, X-linked, MONDO:0024771
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.50
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