PanelApp (staging)
  1. Genes and Genomic Entities
  2. HNRNPR

HNRNPR

heterogeneous nuclear ribonucleoprotein R
OMIM: 607201, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green HNRNPR in Mendeliome


Version 1.2302

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073

Green HNRNPR in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073

    Green HNRNPR in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073