Genomics England
GMS Panels
Panels
Genes and Entities

PYROXD1

pyridine nucleotide-disulphide oxidoreductase domain 1
OMIM: 617220
PanelMode of inheritanceDetails
4 panels
Green
in Congenital muscular dystrophy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R79
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
muscular dystrophy
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 5.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 8, OMIM:617258
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.40
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 8, 617258, adult-onset limb girdle muscular dystrophy