1. Genes and Genomic Entities
  2. YWHAE

YWHAE

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
OMIM: 605066, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green YWHAE 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 Green
    Phenotypes
    • YWHAE-related developmental delay, seizures, hypotonia and brain abnormalities
    Tags
    • de novo
    • gene-checked
    Red YWHAE 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, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • cnv