Genomics England
GMS Panels
Panels
Genes and Entities

HPCA

hippocalcin
OMIM: 142622
PanelMode of inheritanceDetails
2 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia 2, torsion, autosomal recessive, OMIM:224500
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
adolescence-onset segmental dystonia, generalized dystonia with additional neurological features, Dystonia 2, torsion, autosomal recessive, 224500, childhood-onset generalized dystonia