Childhood onset dystonia, chorea or related movement disorder
Gene: HPCA

HPCA (hippocalcin)
EnsemblGeneIds (GRCh38): ENSG00000121905
EnsemblGeneIds (GRCh37): ENSG00000121905
OMIM: 142622, Gene2Phenotype
HPCA is in 4 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PanelApp
Expert Review Green
London North GLH

Phenotypes

adolescence-onset segmental dystonia
generalized dystonia with additional neurological features
Dystonia 2, torsion, autosomal recessive, 224500
childhood-onset generalized dystonia

OMIM

142622

Clinvar variants

Variants in HPCA

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to HPCA. Mode of inheritance for gene HPCA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes adolescence-onset segmental dystonia; generalized dystonia with additional neurological features; Dystonia 2, torsion, autosomal recessive, 224500; childhood-onset generalized dystonia for gene: HPCA Publications for gene HPCA were changed from to 25799108; 30145809