Pharmacogenomics_Paediatric (Version 0.50)

Description

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

Panel Activity

2 reviewers

Zornitza Stark (Victorian Clinical Genetics Services)
David Metz (Royal Children's Hospital)

17 Entities

17 reviewed, 13 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 17 Entitiess
Green Green List (high evidence)	CACNA1S	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes {Malignant hyperthermia susceptibility 5}, MIM# 601887 Tags
Green Green List (high evidence)	CYP2C19	2 reviews 1 green	Other	Sources Expert Review Green Other Phenotypes Voriconazole Tags
Green Green List (high evidence)	CYP2C9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Warfarin sensitivity, MIM# 122700 Phenytoin Tags
Green Green List (high evidence)	CYP2D6	2 reviews 1 green	Other	Sources Expert Review Green Other Phenotypes Codeine, tramadol, oxycodone Tags
Green Green List (high evidence)	CYP3A5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Tacrolimus 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)	HLA-A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Carbamazepine Tags
Green Green List (high evidence)	HLA-B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Carbamazepine Oxcarbamazepine Phenytoin Tags
Green Green List (high evidence)	MT-RNR1	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Gentamicin toxicity Tags mtDNA
Green Green List (high evidence)	NUDT15	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes {Thiopurines, poor metabolism of, 2} 616903 Azathioprine Mercaptopurine Tags
Green Green List (high evidence)	RYR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes {Malignant hyperthermia susceptibility 1} 145600 Tags
Green Green List (high evidence)	TPMT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes {Thiopurines, poor metabolism of, 1}, MIM# 610460 Azathioprine Mercaptopurine Thioguanines Tags
Green Green List (high evidence)	VKORC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Warfarin resistance, MIM# 122700 Tags
Amber Amber List (moderate evidence)	DPYD	2 reviews	Other	Sources Expert Review Amber Other Phenotypes Fluoropyrimidine Tags
Amber Amber List (moderate evidence)	POLG	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Alpers syndrome Tags
No list No list	SLCO1B1	1 review 1 green	Other	Sources Other Phenotypes Risk for simvastatin-induced myopathy Tags
No list No list	UGT1A1	1 review 1 green	Other	Sources Other Phenotypes Irinotecan metabolism, increased toxicities with reduced metaboliser status Atazanavir metabolism, increased risk jaundice and discontinuation with reduced metaboliser status Tags

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