Genomics England
GMS Panels
Panels
Genes and Entities
ISCA-37436-Loss
17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Loss
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Panel
Mode of inheritance
Details
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Hereditary neuropathy or pain disorder
R-numbers:
R78
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes