Genomics England
GMS Panels
Panels
Genes and Entities
ISCA-37436-Gain
17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Gain
See this entity in PanelApp
Panel
Mode of inheritance
Details
Filter panels
1 panel
Green
in
Hereditary neuropathy or pain disorder
R-numbers:
R78
Signed-off version 5.16
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes