1. Genes and Genomic Entities
  2. HNRNPH2

HNRNPH2

heterogeneous nuclear ribonucleoprotein H2
OMIM: 300610, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red HNRNPH2 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Amber HNRNPH2 in Fetal anomalies


Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

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 Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Neurodevelopmental Disorder in Females
Green HNRNPH2 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  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
    • DD-Gene2Phenotype
    Phenotypes
    • Neurodevelopmental Disorder in Females
    Green HNRNPH2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Other
    • Expert Review Green
    • Expert Review Green
    • Other
    Phenotypes
    • Mental retardation, X-linked, syndromic, Bain type, 300986
    • MRXSB
    Green HNRNPH2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Mental retardation, X-linked, syndromic, Bain type, 300986
    • MRXSB
    Green HNRNPH2 in Severe Paediatric Disorders


    Version 1.184

    		review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, X-linked, syndromic, Bain type, 300986