GNPNAT1

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

1 panel

Panel	Reviews	Mode of inheritance	Details
Amber GNPNAT1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.57 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Rhizomelic skeletal dysplasia

Panel

Reviews

Mode of inheritance

Details

Amber GNPNAT1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.57
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Paediatric disorders

review

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Literature

Phenotypes

Rhizomelic skeletal dysplasia