Genomics England
GMS Panels
Panels
Genes and Entities

JPH3_CTG

junctophilin 3
OMIM: 605268
PanelMode of inheritanceDetails
2 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease-like 2, OMIM:606438
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 6.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease-like 2, OMIM:606438