PACSIN3

protein kinase C and casein kinase substrate in neurons 3
OMIM: 606513, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PACSIN3 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital myopathy 27, MIM# 621343

Amber PACSIN3 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital myopathy 27, MIM# 621343

Amber PACSIN3 in Rhabdomyolysis and Metabolic Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital myopathy 27, MIM# 621343