HNRNPR

heterogeneous nuclear ribonucleoprotein R
OMIM: 607201, Gene2Phenotype

4 panels

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


Level 2: Fetal (including NIPD)
Version 8.5
Latest signed off version: v8.0 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073
Green HNRNPR in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073
    Green HNRNPR in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.74
    Latest signed off version: v9.56 (12 Aug 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
    • Expert Review Green
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Postnatal microcephaly
    • Short digit
    • Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073
    Green HNRNPR in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Postnatal microcephaly
    • Short digit
    • Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073