Hydrops fetalis

Gene: G6PD

Red List (low evidence)

G6PD (glucose-6-phosphate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000160211
EnsemblGeneIds (GRCh37): ENSG00000160211
OMIM: 305900, Gene2Phenotype
G6PD is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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 list
Created: 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

13 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: g6pd has been classified as Red List (Low Evidence).

13 Aug 2020, Gel status: 1

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

13 Aug 2020, Gel status: 1

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