Description
This panel is under development, to be used by the Australian Genomics Acute Care Flagship.

2 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • David Metz (Royal Children's Hospital)

3 Entities

reviewed, green

List Entity Reviews Mode of inheritance Details
3 Entitiess
Green Green List (high evidence)
CYP2C19
2 reviews
1 green
Other
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Voriconazole
Tags
Green Green List (high evidence)
G6PD
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Haemolytic anemia, G6PD deficient (favism), MIM# 300908
Tags
Green Green List (high evidence)
MT-RNR1
1 review
1 green
MITOCHONDRIAL
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Gentamicin toxicity
Tags
  • mtDNA

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