1. Genes and Genomic Entities
  2. PABPN1

PABPN1

poly(A) binding protein nuclear 1
OMIM: 602279, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red PABPN1 in Congenital muscular dystrophy


Level 2: Neurology
Version 6.8
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Oculopharyngeal muscular dystrophy, OMIM:164300
    Tags
    • nucleotide-repeat-expansion
    Red PABPN1 in Arthrogryposis


    Level 2: Neurology
    Version 9.24
    Latest signed off version: v9.0 (30 Apr 2025)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Oculopharyngeal muscular dystrophy, 164300
    • Oculopharyngeal muscular dystrophy