PPP1R3A

protein phosphatase 1 regulatory subunit 3A
OMIM: 600917, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red PPP1R3A 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 Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Insulin resistance, severe, digenic 125853
No list PPP1R3A in Monogenic diabetes


Level 2: Endocrinology
Version 3.10
Latest signed off version: v3.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
Phenotypes
  • Insulin resistance, severe, digenic
Tags
  • curated_removed