AGPAT3

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber AGPAT3 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related

Amber AGPAT3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related

Amber AGPAT3 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 0.209

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related