Genes in panel

Adult onset movement disorder

Gene: HPCA

Green List (high evidence)

HPCA (hippocalcin)
EnsemblGeneIds (GRCh38): ENSG00000121905
EnsemblGeneIds (GRCh37): ENSG00000121905
OMIM: 142622, Gene2Phenotype
HPCA is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.

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

Green List (high evidence)

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

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to HPCA.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to HPCA.

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: HPCA was added gene: HPCA was added to Adult onset movement disorder. 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