HNRNPH1

heterogeneous nuclear ribonucleoprotein H1
OMIM: 601035, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green HNRNPH1 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HNRNPH1-related neurodevelopmental disorder
    Green HNRNPH1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • HNRNPH1‐related syndromic intellectual disability
    • Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083
    Green HNRNPH1 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • HNRNPH1-related neurodevelopmental disorder
    • Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083
    Green HNRNPH1 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • HNRNPH1-related neurodevelopmental disorder