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 1.59

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 1.11

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 Diabetes - neonatal onset

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 2.3
Signed off v.2.2 on 19 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Expert Review
Phenotypes
  • neonatal diabetes mellitus

Amber AGPAT2 in Rare genetic inflammatory skin disorders


Version 1.7
Signed off v.1.6 on 15 Oct 2020

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 1.38

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Expert Review Green
  • Expert Review

Green AGPAT2 in Lipodystrophy - childhood onset


Version 2.7
Signed off v.2.4 on 19 Feb 2020

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


Version 2.3
Signed off v.2.2 on 25 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, 608594
  • lipodystrophy

Red AGPAT2 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.26

review Unknown
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia & Reduced Generation of Multiple Motile Cilia Syndrome

Red AGPAT2 in Respiratory ciliopathies including non-CF bronchiectasis


Version 1.8
Signed off v.1.3 on 2 Mar 2020

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


Version 1.115
Signed off v.1.92 on 21 Aug 2020

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

Red AGPAT2 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.565
Signed off v.3.2 on 13 Feb 2020

Component of the following Super Panels:

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