Genomics England
GMS Panels
Panels
Genes and Entities
MATR3
matrin 3
OMIM:
164015
See this entity in PanelApp
Panel
Mode of inheritance
Details
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1 panel
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in
Distal myopathies
Component of the following Super Panels:
- Hypotonic infant
- Other rare neuromuscular disorders
Signed-off version 5.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Distal Myopathy