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BabyScreen+ newborn screening

Gene: G6PD

Green List (high evidence)

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

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Strong gene-disease association
Onset: highly variable (childhood and adult), most individuals asymptomatic over their lifetime
Severity: can be life-threatening if haemolytic anemia occurs but most individuals are asymptomatic
Treatment: avoidance of known precipitants
Created: 7 Oct 2022, 5:12 a.m. | Last Modified: 7 Oct 2022, 5:12 a.m.
Panel Version: 0.490

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Hemolytic anemia, G6PD deficient (favism), MIM# 300908

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • Glucose-6-phosphate dehydrogenase deficiency, MIM#300908
Tags
treatable haematological
OMIM
305900
Clinvar variants
Variants in G6PD
Penetrance
None
Panels with this gene

History Filter Activity

27 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: G6PD. Tag haematological tag was added to gene: G6PD.

26 Oct 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag review was removed from gene: G6PD.

24 Oct 2022, Gel status: 3

Added Tag

Alison Yeung (Victorian Clinical Genetics Services)

Tag review tag was added to gene: G6PD.

7 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: g6pd has been classified as Green List (High Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: G6PD was added gene: G6PD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: G6PD were set to Glucose-6-phosphate dehydrogenase deficiency, MIM#300908