1. Genes and Genomic Entities
  2. YWHAG

YWHAG

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma
OMIM: 605356, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber YWHAG in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.186
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Early-Onset Epilepsy
Green YWHAG in DDG2P


Version 6.447
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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Early-Onset Epilepsy
    Green YWHAG in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.177
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Epileptic encephalopathy, early infantile, 56 617665
    Green YWHAG in Intellectual disability


    Level 2: Developmental disorders
    Version 9.375
    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 Green
    • Expert Review
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile 56, 617665
    • Intellectual disability