HNRNPU

heterogeneous nuclear ribonucleoprotein U
OMIM: 602869, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red HNRNPU in Pituitary hormone deficiency


Level 2: Endocrinology
Version 4.7
Latest signed off version: v4.6 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center
Phenotypes
  • Epileptic encephalopathy, early infantile, 54 (617391)
Green HNRNPU in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.10
Latest signed off version: v7.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Developmental and epileptic encephalopathy 54, OMIM:617391
Green HNRNPU in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY
    Green HNRNPU in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.7
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    Phenotypes
    • Developmental and epileptic encephalopathy 54, OMIM:617391
    Green HNRNPU in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Developmental and epileptic encephalopathy 54, OMIM:617391