1. Genes and Genomic Entities
  2. GPI

GPI

glucose-6-phosphate isomerase
OMIM: 172400, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
No list GPI in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.95

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Nonimmune hydrops fetalis
Amber GPI in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.123

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470
Green GPI in Rare anaemia


Level 2: Haematology
Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470
  • 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
Green GPI in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 613470