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Additional findings_Paediatric

Gene: G6PD

Green List (high evidence)

G6PD (glucose-6-phosphate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000160211
EnsemblGeneIds (GRCh37): ENSG00000160211
OMIM: 305900, Gene2Phenotype
G6PD is in 12 panels

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glucose-6-phosphate dehydrogenase deficiency
OMIM
305900
Clinvar variants
Variants in G6PD
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Glucose-6-phosphate dehydrogenase deficiency for gene: G6PD

27 Aug 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: G6PD was added gene: G6PD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: G6PD were set to Glucose-6-phosphate dehydrogenase deficiency