1. Genes and Genomic Entities
  2. HNRNPC

HNRNPC

heterogeneous nuclear ribonucleoprotein C (C1/C2)
OMIM: 164020, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green HNRNPC in Intellectual disability


Level 2: Developmental disorders
Version 9.370
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 Green
    • NHS GMS
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 74, OMIM:620688
    Amber HNRNPC in Structural eye disease


    Level 2: Ophthalmology
    Version 4.40
    Latest signed off version: v4.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 74, OMIM:620688
    • microphthalmia, isolated, with coloboma, MONDO:0000170