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  2. Dystonia - isolated/combined
  3. HPCA
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Dystonia - isolated/combined

Gene: HPCA

Green List (high evidence)
HPCA (hippocalcin)
EnsemblGeneIds (GRCh38): ENSG00000121905
EnsemblGeneIds (GRCh37): ENSG00000121905
OMIM: 142622, Gene2Phenotype
HPCA is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Torsion dystonia-2 is characterized by onset of symptoms in childhood or adolescence.

At least 4 unrelated families reported.
Created: 28 Apr 2021, 11:44 p.m. | Last Modified: 28 Apr 2021, 11:44 p.m.
Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia 2, torsion, autosomal recessive, MIM# 224500; MONDO:0009141

Publications

Created: 28 Apr 2021, 11:44 p.m.
Last Modified: 28 Apr 2021, 11:44 p.m.
Panel version: 0.39

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia 2, torsion, autosomal recessive, 224500
  • MONDO:0009141
  • childhood-onset generalized dystonia
  • adolescence-onset segmental dystonia
  • generalized dystonia with additional neurological features
OMIM
142622
Clinvar variants
Variants in HPCA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hpca has been classified as Green List (High Evidence).

28 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HPCA were changed from Dystonia 2, torsion, autosomal recessive, 224500; childhood-onset generalized dystonia; adolescence-onset segmental dystonia; generalized dystonia with additional neurological features to Dystonia 2, torsion, autosomal recessive, 224500; MONDO:0009141; childhood-onset generalized dystonia; adolescence-onset segmental dystonia; generalized dystonia with additional neurological features

28 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HPCA were set to

27 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

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