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Fetal anomalies

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)

Severe presentation with hydrops reported in at least four cases.
Sources: Expert list
Created: 13 Aug 2020, 7:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 613470
OMIM
172400
Clinvar variants
Variants in GPI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2022, 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).

14 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GPI were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GPI was added gene: GPI was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPI were set to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 613470