Genomics England
GMS Panels
Panels
Genes and Entities

JPH3_CTG

junctophilin 3
OMIM: 605268
PanelMode of inheritanceDetails
2 panels
Green
in Dystonia, chorea or related movement disorder, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease-like 2, OMIM:606438
Green
in Neurodegenerative disorders, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease-like 2, OMIM:606438