Cerebral Palsy
Gene: HPCA

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)

Red List (low evidence)

Four families reported. Isolated dystonia, variable age of onset, including in adolescence. Insufficient phenotypic overlap with CP.
Sources: Expert list
Created: 25 Sep 2021, 4:15 a.m. | Last Modified: 25 Sep 2021, 4:16 a.m.

Panel Version: 0.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia 2, torsion, autosomal recessive, MIM#224500

Publications

Created: 25 Sep 2021, 4:15 a.m.
Last Modified: 25 Sep 2021, 4:16 a.m.
Panel version: 0.147

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list

Phenotypes

Dystonia 2, torsion, autosomal recessive, MIM#224500

OMIM

142622

Clinvar variants

Variants in HPCA

Penetrance

None

Publications

Panels with this gene

History Filter Activity

25 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hpca has been classified as Red List (Low Evidence).

25 Sep 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HPCA was added gene: HPCA was added to Cerebral Palsy. Sources: Expert list 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, MIM#224500 Review for gene: HPCA was set to RED

Cerebral Palsy Gene: HPCA