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Cytopenias and congenital anaemias

Gene: G6PD

Green List (high evidence)

G6PD (glucose-6-phosphate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000160211
EnsemblGeneIds (GRCh37): ENSG00000160211
OMIM: 305900, Gene2Phenotype
G6PD is in 5 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

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

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
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Hemolytic anemia due to G6PD deficiency, 300908
  • Enzyme Disorder
OMIM
305900
Clinvar variants
Variants in G6PD
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Feb 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for G6PD were set to Hemolytic anemia due to G6PD deficiency, 300908;Enzyme Disorder

28 Feb 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for G6PD were set to 1999409

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

G6PD was created by LouiseD

17 Feb 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

G6PD was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN