Genomics England
GMS Panels
Panels
Genes and Entities

PAX7

paired box 7
OMIM: 167410
PanelMode of inheritanceDetails
2 panels
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, progressive, with scoliosis, OMIM:618578
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, progressive, with scoliosis, OMIM:618578, Myopathy, congenital, progressive, with scoliosis, MONDO:0032821