1. Genes and Genomic Entities
  2. AGPAT3

AGPAT3

1-acylglycerol-3-phosphate O-acyltransferase 3
OMIM: 614794, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red AGPAT3 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • AGPAT3-related intellectual disability and retinitis pigmentosa
    Amber AGPAT3 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.17
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • intellectual disability, MONDO:0001071