HPCA

hippocalcin
OMIM: 142622, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green HPCA in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dystonia 2, torsion, autosomal recessive, 224500
  • childhood-onset generalized dystonia
  • adolescence-onset segmental dystonia
  • generalized dystonia with additional neurological features
Red HPCA in Neurodegenerative disorders, adult onset


Level 2: Neurology
Version 9.5
Latest signed off version: v9.4 (12 Aug 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Dystonia 2, torsion, autosomal recessive, 224500
    • generalized dystonia with additional neurological features
    • adolescence-onset segmental dystonia
    • childhood-onset generalized dystonia
    Green HPCA in Dystonia, chorea or related movement disorder, adult onset


    Level 2: Neurology
    Version 6.8
    Latest signed off version: v6.7 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Dystonia 2, torsion, autosomal recessive, OMIM:224500
    Green HPCA in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • adolescence-onset segmental dystonia
    • generalized dystonia with additional neurological features
    • Dystonia 2, torsion, autosomal recessive, 224500
    • childhood-onset generalized dystonia