Genomics England
GMS Panels
Panels
Genes and Entities
MTMR2
myotubularin related protein 2
OMIM:
603557
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Panel
Mode of inheritance
Details
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in
Hereditary neuropathy or pain disorder
R-numbers:
R78
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4B1, 601382