Hydrops fetalis
Gene: G6PDEnsemblGeneIds (GRCh38): ENSG00000160211
EnsemblGeneIds (GRCh37): ENSG00000160211
OMIM: 305900, Gene2Phenotype
G6PD is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two case reports identified. However, a second diagnosis was present in both and the G6PD deficiency may have contributed to severity rather than being the primary factor.
Sources: Expert listCreated: 13 Aug 2020, 6:32 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hemolytic anemia, G6PD deficient (favism), MIM# 300908
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Hemolytic anemia, G6PD deficient (favism), MIM# 300908
- OMIM
- 305900
- Clinvar variants
- Variants in G6PD
- 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: g6pd has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: G6PD were changed from emolytic anemia, G6PD deficient (favism), MIM# 300908 to Hemolytic anemia, G6PD deficient (favism), MIM# 300908
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: G6PD was added gene: G6PD was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: G6PD were set to 23719252; 24999569 Phenotypes for gene: G6PD were set to emolytic anemia, G6PD deficient (favism), MIM# 300908 Review for gene: G6PD was set to RED