HNRNPR

heterogeneous nuclear ribonucleoprotein R
OMIM: 607201, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green HNRNPR in Mendeliome


Version 1.4558

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM#620073
  • Spermatogenic failure (MONDO:0004983), HNRNPR-related

Green HNRNPR in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.384

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 1.701

    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

    Amber HNRNPR in Infertility and Recurrent Pregnancy Loss


    Version 1.127

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spermatogenic failure (MONDO:0004983), HNRNPR-related