Genomics England
GMS Panels
Panels
Genes and Entities

PYROXD1

pyridine nucleotide-disulphide oxidoreductase domain 1
OMIM: 617220
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, myofibrillar, 8, OMIM:617258
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization