PanelApp
  1. Genes and Genomic Entities
  2. CAPN1

CAPN1

calpain 1
OMIM: 114220, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CAPN1 in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 76, autosomal recessive, MIM#616907
  • MONDO:0014827

Green CAPN1 in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.59

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spastic paraplegia 76, autosomal recessive, 616907
    • MONDO:0014827

    Green CAPN1 in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.15

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert list
    Phenotypes
    • Spastic paraplegia 76 autosomal recessive, 616907
    • MONDO:0014827