AGPAT2

1-acylglycerol-3-phosphate O-acyltransferase 2
OMIM: 603100, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green AGPAT2 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.17

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, MIM# 608594

Green AGPAT2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, congenital generalized, type 1 MIM#608594
Tags
  • SV/CNV

Green AGPAT2 in Monogenic Diabetes


Level 2: Endocrine disorders
Version 0.134

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • congenital generalized lipodystrophy type 1 MONDO:0012071

    Red AGPAT2 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Lipodystrophy, congenital generalized, type 1, MIM# 608594

    Amber AGPAT2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Lipodystrophy, congenital generalized, type 1, MIM# 608594
    Tags
    • for review
    • treatable
    • endocrine