CAPZA2

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber CAPZA2 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, CAPZA2-related

Amber CAPZA2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability