Non-Fanconi anaemia
Gene: G6PD
Comment on mode of inheritance: OMIM records a XLR inheritance for 'Hemolytic anemia due to G6PD deficiency, 300908' and XLD inhertiance for 'Favism, 134700'. Mode of inheritance of G6PD recorded as XLD in related panels.Created: 4 May 2017, 9:54 a.m.
Comment on list classification: Kept rating as Green: Green Expert review plus >3 cases of G6PD variants in anemia cases.Created: 4 May 2017, 9:28 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hemolytic anemia due to G6PD deficiency
This gene has been classified as Green List (High Evidence).
Mode of inheritance for G6PD was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for G6PD were set to Hemolytic anemia due to G6PD deficiency, 300908; congenital nonspherocytic hemolytic anemia; nonspherocytic hemolytic anemia due to G6PD deficiency; Favism, 134700
This gene has been classified as Green List (High Evidence).
Publications for G6PD were set to 10666231
Phenotypes for G6PD were set to Hemolytic anemia due to G6PD deficiency, 300908; congenital nonspherocytic hemolytic anemia; nonspherocytic hemolytic anemia due to G6PD deficiency
Phenotypes for G6PD were set to Hemolytic anemia due to G6PD deficiency, 300908
Model of inheritance for gene G6PD was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
G6PD was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene G6PD was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
G6PD was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene G6PD was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
G6PD was added to Non-Fanconi anaemiapanel. Source: Emory Genetics Laboratory
Model of inheritance for gene G6PD was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
G6PD was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model 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)
G6PD was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model 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)
G6PD was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model 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)
G6PD was added to Non-Fanconi anaemiapanel. Source: Emory Genetics Laboratory
Model 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)
G6PD was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene G6PD was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene G6PD was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene G6PD was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene G6PD was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene G6PD was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene G6PD was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene G6PD was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene G6PD was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene G6PD was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
G6PD was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene G6PD was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
G6PD was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene G6PD was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
G6PD was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services
G6PD was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services