GNPNAT1

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber GNPNAT1 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Rhizomelic dysplasia, Ain-Naz type, MIM#619598

Amber GNPNAT1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Rhizomelic dysplasia, Ain-Naz type, MIM#619598

Amber GNPNAT1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Literature
Phenotypes
  • Rhizomelic dysplasia, Ain-Naz type, MIM#619598

Amber GNPNAT1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Rhizomelic dysplasia, Ain-Naz type, MIM#619598