Red cell disorders
Gene: G6PD
Well established gene-disease association.Created: 6 Sep 2021, 4:46 a.m. | Last Modified: 6 Sep 2021, 4:46 a.m.
Panel Version: 0.51
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Haemolytic anemia, G6PD deficient (favism), MIM# 300908
Gene: g6pd has been classified as Green List (High Evidence).
Phenotypes for gene: G6PD were changed from Haemolytic anemia, G6PD deficient (favism), MIM# 300908 to Haemolytic anaemia, G6PD deficient (favism), MIM# 300908
Phenotypes for gene: G6PD were changed from 300908 Hemolytic anemia, G6PD deficient (favism); Enzyme Disorder; 300908 Hemolytic anemia due to G6PD deficiency; Hemolytic anemia due to G6PD deficiency, 300908 to Haemolytic anemia, G6PD deficient (favism), MIM# 300908
Added phenotypes 300908 Hemolytic anemia, G6PD deficient (favism); Enzyme Disorder; 300908 Hemolytic anemia due to G6PD deficiency; Hemolytic anemia due to G6PD deficiency, 300908 for gene: G6PD
gene: G6PD was added gene: G6PD was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH 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) Publications for gene: G6PD were set to 18177777 Phenotypes for gene: G6PD were set to Hemolytic anemia due to G6PD deficiency, 300908; 300908 Hemolytic anemia due to G6PD deficiency; Enzyme Disorder; 300908 Hemolytic anemia, G6PD deficient (favism)