PLIN1

perilipin 1
OMIM: 170290, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PLIN1 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.17

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, familial partial, type 4, MIM# 613877
Tags
  • disputed

Amber PLIN1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, familial partial, type 4, MIM# 613877
Tags
  • disputed

Amber PLIN1 in Monogenic Diabetes


Level 2: Endocrine disorders
Version 0.134

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Lipodystrophy, familial partial, type 4, 613877
    • Severe insulin resistance, partial lipodystrophy and diabetes
    Tags
    • disputed