PanelApp
  1. Genes and Genomic Entities
  2. CHP1

CHP1

calcineurin like EF-hand protein 1
OMIM: 606988, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CHP1 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.92

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic ataxia 9, autosomal recessive, OMIM #618438

Green CHP1 in Mendeliome


Version 1.3795

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Spastic ataxia 9, autosomal recessive, MIM #618438

Amber CHP1 in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 1.158

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spastic ataxia 9, autosomal recessive, OMIM #618438