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 9.9
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Rhizomelic dysplasia, Ain-Naz type, OMIM:619598
    • rhizomelic dysplasia, Ain-Naz type, MONDO:0859203
    Tags
    • Q2_26_promote_green
    Amber GNPNAT1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.10
    Latest signed off version: v7.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Talipes equinovarus
    • ?Rhizomelic dysplasia, Ain-Naz type, OMIM:619598
    • rhizomelic dysplasia, Ain-Naz type, MONDO:0859203
    Tags
    • Q2_26_promote_green