AGPAT2

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

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green AGPAT2 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.68

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • lipodystrophy
Green AGPAT2 in Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, 608594
Red AGPAT2 in Neonatal diabetes


Level 2: Endocrinology
Version 5.19
Latest signed off version: v5.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Expert Review
Phenotypes
  • neonatal diabetes mellitus, MONDO:0016391
Amber AGPAT2 in Rare genetic inflammatory skin disorders


Level 2: Dermatology
Version 4.18
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Green AGPAT2 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.68

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Green AGPAT2 in Lipodystrophy - childhood onset


Level 2: Endocrinology
Version 4.67
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, 608594
No list AGPAT2 in Monogenic diabetes


Level 2: Endocrinology
Version 3.14
Latest signed off version: v3.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, 608594
  • lipodystrophy
Tags
  • curated_removed
Red AGPAT2 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.56

review Unknown
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia & Reduced Generation of Multiple Motile Cilia Syndrome
Red AGPAT2 in Respiratory ciliopathies including non-CF bronchiectasis


Level 2: Respiratory
Version 4.55
Latest signed off version: v4.0 (30 Apr 2025)

review Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Primary Ciliary Dyskinesia & Reduced Generation of Multiple Motile Cilia Syndrome
Red AGPAT2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.169
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Lipodystrophy 608594
Red AGPAT2 in Intellectual disability


Level 2: Developmental disorders
Version 9.330
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Lipodystrophy, congenital generalized, type 1, 608594