1. Genes and Genomic Entities
  2. YWHAZ

YWHAZ

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta
OMIM: 601288, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red YWHAZ in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • YWHAZ-related developmental delay with simplified gyral pattern
    Red YWHAZ in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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
    • Literature
    Phenotypes
    • Intellectual disability, MONDO:0001071