PLIN1

perilipin 1
OMIM: 170290, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PLIN1 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.42

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • PLIN1-related familial partial lipodystrophy, MONDO:0013478

Green PLIN1 in Mendeliome


Version 1.4559

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • PLIN1-related familial partial lipodystrophy, MONDO:0013478

Green PLIN1 in Monogenic Diabetes


Level 2: Endocrine disorders
Version 0.204

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • PLIN1-related familial partial lipodystrophy, MONDO:0013478