Anaemias and red cell disorders
Gene: G6PD

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

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Enzyme Disorder; Severe hemolytic anemia due to G6PD deficiency

Publications

1999409

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:46 p.m.

Panel version: 0.9

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

UKGTN
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Hemolytic anemia due to G6PD deficiencyFavism, 134700{Resistance to malaria due to G6PD deficiency}, 611162
Glucose-6-Phosphate Dehydrogenase Deficiency
Hemolytic anemia due to G6PD deficiency

OMIM

305900

Clinvar variants

Variants in G6PD

Penetrance

Complete

Panels with this gene

History Filter Activity

22 Jul 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

G6PD was added to Anaemias and red cell disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services

22 Jul 2016, Gel status: 0

Created