1. Genes and Genomic Entities
  2. HNRNPH1

HNRNPH1

heterogeneous nuclear ribonucleoprotein H1
OMIM: 601035, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green HNRNPH1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083
Green HNRNPH1 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
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HNRNPH1-related neurodevelopmental disorder
    Green HNRNPH1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.345
    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, 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


    Level 2: Neurology
    Version 7.18
    Latest signed off version: v7.0 (30 Apr 2025)

    		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