CHP1

calcineurin like EF-hand protein 1
OMIM: 606988, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber CHP1 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 9.3
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Spastic ataxia 9, autosomal recessive, OMIM:618438
    Tags
    • watchlist
    Amber CHP1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.345

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spastic ataxia 9, autosomal recessive, OMIM:618438
    Tags
    • watchlist
    Amber CHP1 in Childhood onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 9.1
    Latest signed off version: v9.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Spastic ataxia 9, autosomal recessive, OMIM:618438
    Tags
    • watchlist
    Amber CHP1 in Adult onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 6.11
    Latest signed off version: v6.10 (6 May 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Spastic ataxia 9, autosomal recessive, OMIM:618438
    Tags
    • watchlist
    Amber CHP1 in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 9.1
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Spastic ataxia 9, autosomal recessive, OMIM:618438
    Tags
    • watchlist