Hydrops fetalis
Gene: GPIEnsemblGeneIds (GRCh38): ENSG00000105220
EnsemblGeneIds (GRCh37): ENSG00000105220
OMIM: 172400, Gene2Phenotype
GPI is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Severe presentation with hydrops reported in at least four cases.
Sources: Expert listCreated: 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
- Expert list
- Phenotypes
-
- Hemolytic anemia, 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gpi has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gpi has been classified as Green List (High Evidence).
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 Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPI were set to 29227722; 3796702; 469896; 26509025 Phenotypes for gene: GPI were set to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470 Review for gene: GPI was set to GREEN