Chronic granulomatous disease
Gene: G6PDEnsemblGeneIds (GRCh38): ENSG00000160211
EnsemblGeneIds (GRCh37): ENSG00000160211
OMIM: 305900, Gene2Phenotype
G6PD is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Severe G6PD deficiency reported as resembling CGD.Created: 24 Jul 2021, 7:03 a.m. | Last Modified: 24 Jul 2021, 7:03 a.m.
Panel Version: 0.17
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Haemolytic anemia, G6PD deficient (favism), MIM# 300908
Publications
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
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: g6pd has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: G6PD were set to
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: g6pd has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: G6PD was added gene: G6PD was added to Chronic granulomatous disease. Sources: Expert list Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: G6PD were set to Hemolytic anemia, G6PD deficient (favism) MIM#300908