HNRNPH2

heterogeneous nuclear ribonucleoprotein H2
OMIM: 300610, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green HNRNPH2 in Mendeliome


Version 1.1891

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986

Green HNRNPH2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986

    Green HNRNPH2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986

    Green HNRNPH2 in Fetal anomalies


    Version 1.255

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986