Dystonia - childhood onset
Gene: HPCA

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

0 reviews

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

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

OMIM

142622

Clinvar variants

Variants in HPCA

Penetrance

None

Publications

Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: HPCA was added gene: HPCA was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: HPCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPCA were set to 30145809; 25799108 Phenotypes for gene: HPCA were set to Dystonia 2, torsion, autosomal recessive, 224500; generalized dystonia with additional neurological features; childhood-onset generalized dystonia; adolescence-onset segmental dystonia