Genomics England
GMS Panels
Panels
Genes and Entities
PYROXD1
pyridine nucleotide-disulphide oxidoreductase domain 1
OMIM:
617220
See this entity in PanelApp
Panel
Mode of inheritance
Details
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1 panel
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in
Congenital myopathy
Component of the following Super Panels:
- Hypotonic infant
- Other rare neuromuscular disorders
R-numbers:
R81
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 8, OMIM:617258