HNRNPD

heterogeneous nuclear ribonucleoprotein D
OMIM: 601324, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green HNRNPD in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HNRNPD-related developmental disorder (monoallelic)
    Tags
    • gene-checked
    Amber HNRNPD in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Developmental disorders
    Tags
    • watchlist