PanelApp
  1. Genes and Genomic Entities
  2. HPCA

HPCA

hippocalcin
OMIM: 142622, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red HPCA in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.400

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Dystonia 2, torsion, autosomal recessive, MIM#224500

Green HPCA in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dystonia 2, torsion, autosomal recessive, MIM# 224500
  • MONDO:0009141

Green HPCA in Dystonia - isolated/combined


Level 2: Neurology and neurodevelopmental disorders
Version 1.42

Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review 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