PanelApp (stage)
  1. Genes and Genomic Entities
  2. HNRNPU

HNRNPU

heterogeneous nuclear ribonucleoprotein U
OMIM: 602869, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green HNRNPU in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental and epileptic encephalopathy 54 MIM# 617391

Green HNRNPU in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Developmental and epileptic encephalopathy 54 MIM# 617391

    Green HNRNPU in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Developmental and epileptic encephalopathy 54 MIM# 617391

    Red HNRNPU in Pituitary hormone deficiency


    Level 2: Endocrine disorders
    Version 0.34

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Epileptic encephalopathy, early infantile, 54 (617391)

    Red HNRNPU in Fetal anomalies


    Version 1.255

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Epileptic encephalopathy, early infantile, 54, MIM#617391