PLAAT3

phospholipase A and acyltransferase 3
OMIM: 613867, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PLAAT3 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lipodystrophy, familial partial, type 9, MIM# 620683
Tags
  • new gene name

Green PLAAT3 in Mendeliome


Version 2.10

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lipodystrophy, familial partial, type 9, MIM# 620683
Tags
  • new gene name

Green PLAAT3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.1

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lipodystrophy, familial partial, type 9, MIM# 620683
Tags
  • new gene name

Green PLAAT3 in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lipodystrophy, familial partial, type 9, MIM# 620683
    Tags
    • new gene name

    Green PLAAT3 in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 1.0

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Lipodystrophy, familial partial, type 9, MIM# 620683
    Tags
    • new gene name