G6PD

glucose-6-phosphate dehydrogenase
OMIM: 305900, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red G6PD in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Phenotypes Hemolytic anemia, G6PD deficient (favism), MIM# 300908
Green G6PD in Mendeliome Version 2.0	1 review	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 Victorian Clinical Genetics Services Phenotypes Haemolytic anaemia, G6PD deficient (favism), MIM# 300908
Green G6PD in Additional findings_Adult Level 2: Screening Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Haemolytic anemia, G6PD deficient (favism), MIM# 300908
Green G6PD in Phagocyte Defects Level 2: Immunological disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Hemolytic anemia, G6PD deficient (favism), MIM# 300908
Amber G6PD in Pulmonary Arterial Hypertension Level 2: Cardiovascular disorders Version 2.0	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes Pulmonary arterial hypertension
Green G6PD in Chronic granulomatous disease Level 2: Immunological disorders Version 2.0	1 review	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
Green G6PD in Pharmacogenomics_Paediatric Level 2: Screening Version 1.0	1 review	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 Haemolytic anemia, G6PD deficient (favism), MIM# 300908
Green G6PD in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Glucose-6-phosphate dehydrogenase deficiency
Green G6PD in Red cell disorders Level 2: Haematological disorders Version 2.0	1 review	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 Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH North West GLH London South GLH Phenotypes Haemolytic anaemia, G6PD deficient (favism), MIM# 300908
Red G6PD in Fetal anomalies Version 2.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Phenotypes Haemolytic anaemia, G6PD deficient (300908)
Red G6PD in Prepair 1000+ Level 2: Screening Version 3.0	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Haemolytic anaemia, G6PD deficient (favism) (MIM#300908)
Green G6PD in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Glucose-6-phosphate dehydrogenase deficiency, MIM#300908 Tags treatable haematological
Green G6PD in Transplant Co-Morbidity Level 2: Screening Version 1.0	1 review	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 Phenotypes Haemolytic anaemia