HNRNPH2:Ensemblv90

heterogeneous nuclear ribonucleoprotein H2
OMIM: 300610, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green HNRNPH2 in Mendeliome


Version 1.3802

1 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 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 2 reviews 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 1.508

    1 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 1.482

    1 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

    Green HNRNPH2 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    2 reviews X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green
    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 2.0

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

    Green HNRNPH2 in Fetal anomalies


    Version 2.0

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