Genomics England
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Panels
Genes and Entities
PMP2
peripheral myelin protein 2
OMIM:
170715
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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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279