CAPZA2

capping actin protein of muscle Z-line alpha subunit 2
OMIM: 601571, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber CAPZA2 in Intellectual disability


Level 2: Developmental disorders
Version 9.370
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • intellectual disability