1. Genes and Genomic Entities
  2. GNPNAT1

GNPNAT1

glucosamine-phosphate N-acetyltransferase 1
OMIM: 616510, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber GNPNAT1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Rhizomelic skeletal dysplasia
    Amber GNPNAT1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Rhizomelic dysplasia, Ain-Naz type