Genomics England
GMS Panels
Panels
Genes and Entities
JPH3_CTG
junctophilin 3
OMIM:
605268
See this entity in PanelApp
Panel
Mode of inheritance
Details
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1 panel
Green
in
Adult onset movement disorder
R-numbers:
R56
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease-like 2, OMIM:606438