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Red cell disorders

Gene: GPI

Green List (high evidence)
GPI (glucose-6-phosphate isomerase)
EnsemblGeneIds (GRCh38): ENSG00000105220
EnsemblGeneIds (GRCh37): ENSG00000105220
OMIM: 172400, Gene2Phenotype
GPI is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 7 Sep 2021, 9:32 a.m. | Last Modified: 7 Sep 2021, 9:32 a.m.
Panel Version: 0.70

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Haemolytic anaemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470

Publications

Created: 7 Sep 2021, 9:32 a.m.
Last Modified: 7 Sep 2021, 9:32 a.m.
Panel version: 0.70

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Haemolytic anaemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470
OMIM
172400
Clinvar variants
Variants in GPI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gpi has been classified as Green List (High Evidence).

7 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GPI were changed from 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 to Haemolytic anaemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470

7 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GPI were set to 411100

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 for gene: GPI

15 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GPI was added gene: GPI was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPI were set to 411100 Phenotypes for gene: GPI were set to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470; 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency