PLIN1

perilipin 1
OMIM: 170290, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber PLIN1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes
Amber PLIN1 in Insulin resistance (including lipodystrophy)

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, familial partial, type 4, 613877
Green PLIN1 in Familial diabetes

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Lipodystrophy, familial partial, type 4, OMIM:613877
Green PLIN1 in Lipodystrophy - childhood onset


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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, familial partial, type 4, 613877
Green PLIN1 in Monogenic diabetes


Level 2: Endocrinology
Version 3.8
Latest signed off version: v3.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lipodystrophy, familial partial, type 4, OMIM:613877