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Primary immunodeficiency

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

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Four patients from 2 kindreds displayed an impaired neutrophil oxidative burst and susceptibility to bacterial or mycobacterial infection associated with severe G6PD deficiency. Strong scientific case that these are aetiologically linked. However the majority of individuals with G6PD deficiency do not display increased susceptibility to infection.
Created: 11 Jun 2018, 2:18 p.m.

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

Phenotypes
haemolytic anaemia; chronic granulomatous disease-like susceptibility to infection

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): G6PD .PanelApp HGNC gene symbol check: G6PD . IUIS Disease: G6PD deficiency Class I . IUIS Inheritance: XL .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N. IUIS Associated features: Infections. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Defects of Respiratory Burst
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: After internal clinical review and in view of external review, it was felt this gene could be rated as Green. Even though there is some reservation about the relevance of a PID phenotype for the majority of people with G6PD deficiency. As we are selecting those with an immune phenotype already, it is potentially of relevance to them (albeit borderline). Also, if they have G6PD it is relevant to their management in terms of avoiding certain foods and medications so is probably worth knowing about even if it isn't the cause for the immune phenotype. Therefore a borderline green rating is be applicable for this panel
Created: 15 Jun 2018, 10:09 a.m.
Comment on publications: PMID: 3681550 Mallouh et al. (1987) reviewed the G6PD status of all children aged 1 month to 14 years in Saudi Arabia, who were treated for meningitis, septicemia, osteomyelitis, or typhoid fever during a 9-year period. The observed frequency of G6PD deficiency was significantly higher than expected for the entire group.
Created: 15 Jun 2018, 10:01 a.m.
Comment on list classification: Changed Red to Amber, External expert review recommends Green status but also from expert review and info in the literature it is noted that the majority G6PD deficiency patients are not susceptible to infections due to impaired leukocyte bactericidal activity, so those gene has been made Amber for now until further evidence
Created: 12 Jun 2018, 4:09 p.m.
Comment on publications: Added further publications PMID: 12130518 (2002) to support cases of G6PD deficiency who may be more susceptible to infections due to impaired leukocyte bactericidal activity. However, there are reports where G6PD deficiency patients are not susceptible to infections due to impaired leukocyte bactericidal activity PMID: 27467818
Created: 12 Jun 2018, 3:56 p.m.
Changed Red to Amber, external review comment suggests Green, but in line with the review that the majority of individuals with G6PD deficiency do not display increased susceptibility to infection this gene will be Amber until further evidence.
Created: 12 Jun 2018, 3:47 p.m.
Comment on publications: Added publications suggested from external expert review
Created: 12 Jun 2018, 3:20 p.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 12 Jun 2018, 3:20 p.m.
Comment on mode of inheritance: Added MOI from external expert review
Created: 12 Jun 2018, 3:19 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: G6PD, PanelApp HGNC gene symbol check: G6PD, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Neutrophil glucose-6-phosphate dehydrogenase / Glucose-6-phosphate dehydrogenase deficiency (G6PD)
Created: 17 Apr 2018, 12:29 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
Phenotypes
  • Glucose-6-phosphate dehydrogenase deficiency (G6PD)
  • haemolytic anaemia
  • chronic granulomatous disease-like susceptibility to infection
  • Infections
  • Congenital defects of phagocyte number or function
OMIM
305900
Clinvar variants
Variants in G6PD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to G6PD.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to G6PD.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to G6PD.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene G6PD were set to Glucose-6-phosphate dehydrogenase deficiency (G6PD), haemolytic anaemia, chronic granulomatous disease-like susceptibility to infection, Infections, Congenital defects of phagocyte number or function

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to G6PD. Panel: Primary immunodeficiency disorders

15 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

15 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

15 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: g6pd has been classified as Amber List (Moderate Evidence).

15 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: G6PD were set to 27458052; 27914961; 12130518; 3681550

12 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: g6pd has been classified as Amber List (Moderate Evidence).

12 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: g6pd has been classified as Amber List (Moderate Evidence).

12 Jun 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: G6PD were set to 27458052; 27914961; 12130518

12 Jun 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: G6PD were set to 27458052; 27914961

12 Jun 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: G6PD were set to Glucose-6-phosphate dehydrogenase deficiency (G6PD); haemolytic anaemia; chronic granulomatous disease-like susceptibility to infection

12 Jun 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: G6PD was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

G6PD was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

G6PD was created by Louise Daugherty