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Pharmacogenomics_Paediatric v0.50 UGT1A1 David Metz gene: UGT1A1 was added
gene: UGT1A1 was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: UGT1A1 was set to Other
Publications for gene: UGT1A1 were set to 21412232; 25817555; 26417955
Phenotypes for gene: UGT1A1 were set to Irinotecan metabolism, increased toxicities with reduced metaboliser status; Atazanavir metabolism, increased risk jaundice and discontinuation with reduced metaboliser status
Mode of pathogenicity for gene: UGT1A1 was set to Other
Review for gene: UGT1A1 was set to GREEN
Added comment: Sources: Other
Pharmacogenomics_Paediatric v0.50 SLCO1B1 David Metz reviewed gene: SLCO1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22617227; Phenotypes: Risk for simvastatin-induced myopathy; Mode of inheritance: None
Pharmacogenomics_Paediatric v0.50 CYP2C9 David Metz edited their review of gene: CYP2C9: Changed phenotypes: Phenytoin metabolism - increased risk toxicities
Pharmacogenomics_Paediatric v0.50 CYP2C9 David Metz changed review comment from: 25099164
Reduced phenytoin metabolism, increased risk phenytoin-induced SJS/TEN
If CYP2C9 IM or PM and phenytoin naive, avoid phenytoin.; to: 25099164
If CYP2C9 IM, consider 25% reduction starting dose (moderate recommendation).
If CYP2C9 PM, consider 50% reduction starting dose phenytoin (strong recommendation).
Pharmacogenomics_Paediatric v0.50 HLA-B David Metz changed review comment from:
HLA-B*15:02:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).
Increased phenytoin-induced SJS/TEN (moderate association, 23692434).

PMID 26094938
HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
25934581, 22378157

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810

PMID 32714190 (review article)
HLA-B*57:01, carbamazepine and SJS/TEN.
HLA-B*15:11, carbamazepine and SJS/TEN.

HLA-B*13:01, dapsone and DRESS (29458119); to:
HLA-B*15:02:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).
Increased phenytoin-induced SJS/TEN (25099164).

PMID 26094938
HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
25934581, 22378157

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810

PMID 32714190 (review article)
HLA-B*57:01, carbamazepine and SJS/TEN.
HLA-B*15:11, carbamazepine and SJS/TEN.

HLA-B*13:01, dapsone and DRESS (29458119)
Pharmacogenomics_Paediatric v0.50 CYP2C9 David Metz edited their review of gene: CYP2C9: Added comment: 25099164
Reduced phenytoin metabolism, increased risk phenytoin-induced SJS/TEN
If CYP2C9 IM or PM and phenytoin naive, avoid phenytoin.; Changed publications: 18406467, 25099164; Changed phenotypes: Increased risk phenytoin-induced SJS/TEN
Pharmacogenomics_Paediatric v0.50 HLA-B David Metz changed review comment from:
HLA-B*15:02:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).
Increased phenytoin-induced SJS/TEN (moderate association, 23692434).

PMID 26094938
HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
25934581, 22378157

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810

PMID 32714190 (review article)
HLA-B*57:01, carbamazepine and SJS/TEN.
HLA-B*15:11, carbamazepine and SJS/TEN.

HLA-B*13:01, dapsone and DRESS (29458119); to:
HLA-B*15:02:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).
Increased phenytoin-induced SJS/TEN (moderate association, 23692434).

PMID 26094938
HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
25934581, 22378157

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810

PMID 32714190 (review article)
HLA-B*57:01, carbamazepine and SJS/TEN.
HLA-B*15:11, carbamazepine and SJS/TEN.

HLA-B*13:01, dapsone and DRESS (29458119)
Pharmacogenomics_Paediatric v0.50 SLCO1B1 David Metz gene: SLCO1B1 was added
gene: SLCO1B1 was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: SLCO1B1 was set to Other
Publications for gene: SLCO1B1 were set to 22617227
Phenotypes for gene: SLCO1B1 were set to Risk for simvastatin-induced myopathy
Mode of pathogenicity for gene: SLCO1B1 was set to Other
Pharmacogenomics_Paediatric v0.50 DPYD David Metz changed review comment from: Fluoropyrimidine Dosing
Sources: Other; to: Fluoropyrimidine (5-FU) Dosing
Capecitabine
Tegafur

Sources:
31038729
28262261
https://www.pharmgkb.org/guidelineAnnotation/PA166202721
Pharmacogenomics_Paediatric v0.50 HLA-B David Metz changed review comment from:
HLA-B*15:02:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).
Increased phenytoin-induced SJS/TEN (moderate association, 23692434).

PMID 26094938
HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
25934581, 22378157

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810

PMID 32714190 (review article)
HLA-B*57:01, carbamazepine and SJS/TEN.
HLA-B*15:11, carbamazepine and SJS/TEN.
HLA-B*31:01, carbamazepine and DRESS.

HLA-B*13:01, dapsone and DRESS (29458119)

PMID 32714190 (review article)
Phenytoin and B*15:02, B*13:01, B*51:01 (? strength)
Others (beta-lactams, fluclox, augmentin, nevirapine).; to:
HLA-B*15:02:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).
Increased phenytoin-induced SJS/TEN (moderate association, 23692434).

PMID 26094938
HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
25934581, 22378157

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810

PMID 32714190 (review article)
HLA-B*57:01, carbamazepine and SJS/TEN.
HLA-B*15:11, carbamazepine and SJS/TEN.

HLA-B*13:01, dapsone and DRESS (29458119)
Pharmacogenomics_Paediatric v0.50 HLA-B David Metz changed review comment from:
HLA-B*15:02:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).
Increased phenytoin-induced SJS/TEN (moderate association, 23692434).

PMID 26094938
HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
25934581, 22378157
HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810

PMID 32714190 (review article)
HLA-B*57:01, carbamazepine and SJS/TEN.
HLA-B*15:11, carbamazepine and SJS/TEN.
HLA-B*31:01, carbamazepine and DRESS.

HLA-B*13:01, dapsone and DRESS (29458119)

PMID 32714190 (review article)
Phenytoin and B*15:02, B*13:01, B*51:01 (? strength)
Others (beta-lactams, fluclox, augmentin, nevirapine).; to:
HLA-B*15:02:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).
Increased phenytoin-induced SJS/TEN (moderate association, 23692434).

PMID 26094938
HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
25934581, 22378157

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810

PMID 32714190 (review article)
HLA-B*57:01, carbamazepine and SJS/TEN.
HLA-B*15:11, carbamazepine and SJS/TEN.
HLA-B*31:01, carbamazepine and DRESS.

HLA-B*13:01, dapsone and DRESS (29458119)

PMID 32714190 (review article)
Phenytoin and B*15:02, B*13:01, B*51:01 (? strength)
Others (beta-lactams, fluclox, augmentin, nevirapine).
Pharmacogenomics_Paediatric v0.50 HLA-B David Metz changed review comment from:
HLA-B*15:02 positive:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
PMID: 25934581
PMID: 22378157

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to:
HLA-B*15:02:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).
Increased phenytoin-induced SJS/TEN (moderate association, 23692434).

PMID 26094938
HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
25934581, 22378157
HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810

PMID 32714190 (review article)
HLA-B*57:01, carbamazepine and SJS/TEN.
HLA-B*15:11, carbamazepine and SJS/TEN.
HLA-B*31:01, carbamazepine and DRESS.

HLA-B*13:01, dapsone and DRESS (29458119)

PMID 32714190 (review article)
Phenytoin and B*15:02, B*13:01, B*51:01 (? strength)
Others (beta-lactams, fluclox, augmentin, nevirapine).
Pharmacogenomics_Paediatric v0.50 HLA-B David Metz changed review comment from: PMID 29392710
HLA-B*15:02 positive:
Greater risk of carbamazepine-induced SJS/TEN.
Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to:
HLA-B*15:02 positive:
Increased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increase oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).
Increased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.
PMID: 25934581
PMID: 22378157

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810
Pharmacogenomics_Paediatric v0.49 TPMT David Metz commented on gene: TPMT: In newborn infants, peripheral blood TPMT activity is 50% greater than in race-matched adults and shows a distribution of activity consistent with the polymorphism characterized in adults.
Pharmacogenomics_Paediatric v0.49 CYP2C19 Zornitza Stark Publications for gene: CYP2C19 were set to 27981572
Pharmacogenomics_Paediatric v0.48 CYP2D6 Zornitza Stark Publications for gene: CYP2D6 were set to 18406467
Pharmacogenomics_Paediatric v0.47 CYP3A5 Zornitza Stark Publications for gene: CYP3A5 were set to 25801146
Pharmacogenomics_Paediatric v0.46 TPMT Zornitza Stark Phenotypes for gene: TPMT were changed from {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine; Mercaptopurine to {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine; Mercaptopurine; Thioguanines
Pharmacogenomics_Paediatric v0.45 HLA-B Zornitza Stark Publications for gene: HLA-B were set to 25099164; 23695185; 29392710
Pharmacogenomics_Paediatric v0.44 POLG Zornitza Stark Marked gene: POLG as ready
Pharmacogenomics_Paediatric v0.44 POLG Zornitza Stark Gene: polg has been classified as Amber List (Moderate Evidence).
Pharmacogenomics_Paediatric v0.44 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to Alpers syndrome
Pharmacogenomics_Paediatric v0.43 POLG Zornitza Stark Mode of pathogenicity for gene: POLG was changed from Other to None
Pharmacogenomics_Paediatric v0.42 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Pharmacogenomics_Paediatric v0.41 POLG Zornitza Stark Classified gene: POLG as Amber List (moderate evidence)
Pharmacogenomics_Paediatric v0.41 POLG Zornitza Stark Gene: polg has been classified as Amber List (Moderate Evidence).
Pharmacogenomics_Paediatric v0.40 POLG Zornitza Stark reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpers syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pharmacogenomics_Paediatric v0.40 DPYD Zornitza Stark Marked gene: DPYD as ready
Pharmacogenomics_Paediatric v0.40 DPYD Zornitza Stark Gene: dpyd has been classified as Amber List (Moderate Evidence).
Pharmacogenomics_Paediatric v0.40 DPYD Zornitza Stark Phenotypes for gene: DPYD were changed from to Fluoropyrimidine
Pharmacogenomics_Paediatric v0.39 DPYD Zornitza Stark Classified gene: DPYD as Amber List (moderate evidence)
Pharmacogenomics_Paediatric v0.39 DPYD Zornitza Stark Gene: dpyd has been classified as Amber List (Moderate Evidence).
Pharmacogenomics_Paediatric v0.38 DPYD Zornitza Stark edited their review of gene: DPYD: Changed rating: AMBER
Pharmacogenomics_Paediatric v0.38 DPYD Zornitza Stark reviewed gene: DPYD: Rating: GREEN; Mode of pathogenicity: None; Publications: 29152729; Phenotypes: Fluoropyrimidine; Mode of inheritance: None
Pharmacogenomics_Paediatric v0.38 CYP2D6 Zornitza Stark Marked gene: CYP2D6 as ready
Pharmacogenomics_Paediatric v0.38 CYP2D6 Zornitza Stark Gene: cyp2d6 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.38 CYP2D6 Zornitza Stark Phenotypes for gene: CYP2D6 were changed from to Codeine, tramadol, oxycodone
Pharmacogenomics_Paediatric v0.37 CYP2D6 Zornitza Stark Classified gene: CYP2D6 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.37 CYP2D6 Zornitza Stark Gene: cyp2d6 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.36 CYP2D6 Zornitza Stark reviewed gene: CYP2D6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18406467, 24458010; Phenotypes: Codeine, tramadol, oxycodone; Mode of inheritance: None
Pharmacogenomics_Paediatric v0.36 CYP2C19 Zornitza Stark Marked gene: CYP2C19 as ready
Pharmacogenomics_Paediatric v0.36 CYP2C19 Zornitza Stark Gene: cyp2c19 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.36 CYP2C19 Zornitza Stark Phenotypes for gene: CYP2C19 were changed from to Voriconazole
Pharmacogenomics_Paediatric v0.35 CYP2C19 Zornitza Stark Classified gene: CYP2C19 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.35 CYP2C19 Zornitza Stark Gene: cyp2c19 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.34 CYP2C19 Zornitza Stark reviewed gene: CYP2C19: Rating: GREEN; Mode of pathogenicity: None; Publications: 27981572, 26616742, 31549386; Phenotypes: Voriconazole; Mode of inheritance: None
Pharmacogenomics_Paediatric v0.34 Zornitza Stark removed gene:CFTR from the panel
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz changed review comment from: PMID 29392710
HLA-B*15:02 positive:
Greater risk of carbamazepine-induced SJS/TEN.
Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to: PMID 29392710
HLA-B*15:02 positive:
Greater risk of carbamazepine-induced SJS/TEN.
Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810
Pharmacogenomics_Paediatric v0.33 TPMT David Metz commented on gene: TPMT
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz changed review comment from: (27981572)
Voriconazole, moderate strength.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."

(23698643)
Clopidogrel, strong recommendation (though only shown in adult acute coronary syndrome / percutaneous coronary intervention).
Poor metabolizer: Significantly reduced platelet inhibition; increased residual platelet aggregation; increased risk for adverse cardiovascular events.
Sources: Other; to: (27981572)
Voriconazole, moderate strength.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."
Pharmacogenomics_Paediatric v0.33 POLG David Metz gene: POLG was added
gene: POLG was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: POLG was set to Other
Publications for gene: POLG were set to 20138553
Mode of pathogenicity for gene: POLG was set to Other
Added comment: "POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders"
Sources: Other
Pharmacogenomics_Paediatric v0.33 DPYD David Metz gene: DPYD was added
gene: DPYD was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: DPYD was set to Other
Publications for gene: DPYD were set to 29152729
Mode of pathogenicity for gene: DPYD was set to Other
Added comment: Fluoropyrimidine Dosing
Sources: Other
Pharmacogenomics_Paediatric v0.33 CYP2D6 David Metz changed review comment from: (24458010)
Strong evidence. Risk of toxicity from codeine, tramadol, (oxycodone) if ultrarapid metaboliser.
Insensitivity to codeine, tramadol, (oxycodone) if poor metaboliser.

Genotype-phenotype concordance from 2 weeks of age (18406467) ; to: PMID: 18406467
Genotype-phenotype concordance from 2 weeks of age

PMID: 24458010
Strong evidence. Risk of toxicity from codeine, tramadol, (oxycodone) if ultrarapid metaboliser.
Insensitivity to codeine, tramadol, (oxycodone) if poor metaboliser.
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz changed review comment from: PMID 29392710
HLA-B*15:02 positive:
Greater risk of carbamazepine-induced SJS/TEN.
Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to: PMID 29392710
HLA-B*15:02 positive:
Greater risk of carbamazepine-induced SJS/TEN.
Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz changed review comment from: PMID 29392710
HLA-B*15:02 positive: Greater risk of carbamazepine-induced SJS/TEN. Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to: PMID 29392710
HLA-B*15:02 positive:
Greater risk of carbamazepine-induced SJS/TEN.
Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz Deleted their comment
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz changed review comment from: Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN
(26094938)


HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to: PMID 29392710
HLA-B*15:02 positive: Greater risk of carbamazepine-induced SJS/TEN. Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810
Pharmacogenomics_Paediatric v0.33 HLA-A David Metz changed review comment from: Carbamazepine/Oxcarbazapine.
HLA-B*15:02 or HLA-A*31:01 a/w increase risk of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN).
HLA-A*31:01 a/w with risk of drug reaction with eosinophilia and systemic symptoms (DRESS) and maculopapular exanthema (MPE).; to: PMID 29392710
HLA-A*31:01 positive: Greater risk of carbamazepine-induced SJS/TEN, DRESS, and MPE (maculopapular exanthema)
Pharmacogenomics_Paediatric v0.33 HLA-A David Metz changed review comment from: Carbamazepine/Oxcarbazapine.
At least one copy of either HLA-B*15:02 or HLA-A*31:01 associated with increased risk of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN).
HLA-A*31:01 also associated with risk of drug reaction with eosinophilia and systemic symptoms (DRESS) and maculopapular exanthema (MPE).; to: Carbamazepine/Oxcarbazapine.
HLA-B*15:02 or HLA-A*31:01 a/w increase risk of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN).
HLA-A*31:01 a/w with risk of drug reaction with eosinophilia and systemic symptoms (DRESS) and maculopapular exanthema (MPE).
Pharmacogenomics_Paediatric v0.33 HLA-A David Metz commented on gene: HLA-A
Pharmacogenomics_Paediatric v0.33 CYP2D6 David Metz changed review comment from: (24458010)
Strong evidence. Risk of toxicity from codeine (lesser extent tramadol, oxycodone) if ultrarapid metaboliser.
Insensitivity to codeine (tramadol, oxycodone) if poor metaboliser.

Genotype-phenotype concordance from 2 weeks of age (18406467) ; to: (24458010)
Strong evidence. Risk of toxicity from codeine, tramadol, (oxycodone) if ultrarapid metaboliser.
Insensitivity to codeine, tramadol, (oxycodone) if poor metaboliser.

Genotype-phenotype concordance from 2 weeks of age (18406467)
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz changed review comment from: Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742).

Voriconazole: Increased success cf. historical controls (PMID 31549386); to: Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742), reduced underexposure (PMID: 31549389) (PMID 31549386)
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz changed review comment from: Improved time to target concentration with genotype directed dosing (PMID 26616742).

Increased success cf. historical controls (PMID 31549386); to: Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742).

Voriconazole: Increased success cf. historical controls (PMID 31549386)
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz changed review comment from: Improved time to target concentration with genotype directed dosing (PMID 26616742); to: Improved time to target concentration with genotype directed dosing (PMID 26616742).

Increased success cf. historical controls (PMID 31549386)
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz edited their review of gene: CYP2C19: Added comment: Improved time to target concentration with genotype directed dosing (PMID 26616742); Changed publications: 27981572, 26616742
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz edited their review of gene: HLA-B: Added comment: Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN
(26094938)


HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; Changed publications: 26094938
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz commented on gene: HLA-B
Pharmacogenomics_Paediatric v0.33 CFTR David Metz Deleted their review
Pharmacogenomics_Paediatric v0.33 CFTR David Metz gene: CFTR was added
gene: CFTR was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: CFTR was set to Other
Mode of pathogenicity for gene: CFTR was set to Other
Added comment: CF genotype responsive to Ivacaftor
Sources: Other
Pharmacogenomics_Paediatric v0.33 CYP2D6 David Metz changed review comment from: Genotype-phenotype concordance from 2 weeks of age (18406467)
Sources: Other; to: (24458010)
Strong evidence. Risk of toxicity from codeine (lesser extent tramadol, oxycodone) if ultrarapid metaboliser.
Insensitivity to codeine (tramadol, oxycodone) if poor metaboliser.

Genotype-phenotype concordance from 2 weeks of age (18406467)
Pharmacogenomics_Paediatric v0.33 CYP2C9 David Metz changed review comment from: (32189324)
Note poor metabolizer status has increased exposure (and possible sensitivity) to certain NSAIDs.
"Alternative therapies not primarily metabolized by CYP2C9 include aspirin, ketorolac, naproxen, and sulindac. Selection of
therapy will depend on individual patient treatment goals and risks for toxicity."
Probably not sufficient evidence to test for CYP2C9 alone, however if information available may be worth noting.; to: (32189324)
Note poor metabolizer status has increased exposure (and possible sensitivity) to certain NSAIDs.
"Alternative therapies not primarily metabolized by CYP2C9 include aspirin, ketorolac, naproxen, and sulindac. Selection of therapy will depend on individual patient treatment goals and risks for toxicity."
Probably not sufficient evidence to test for CYP2C9 alone, however if information available may be worth noting.
Pharmacogenomics_Paediatric v0.33 CYP2C9 David Metz commented on gene: CYP2C9: (32189324)
Note poor metabolizer status has increased exposure (and possible sensitivity) to certain NSAIDs.
"Alternative therapies not primarily metabolized by CYP2C9 include aspirin, ketorolac, naproxen, and sulindac. Selection of
therapy will depend on individual patient treatment goals and risks for toxicity."
Probably not sufficient evidence to test for CYP2C9 alone, however if information available may be worth noting.
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz changed review comment from: (27981572)
Voriconazole, moderate level evidence.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."

(23698643)
Clopidogrel, strong evidence (though only shown in adult acute coronary syndrome / percutaneous coronary intervention).
Poor metabolizer: Significantly reduced platelet inhibition; increased residual platelet aggregation; increased risk for adverse cardiovascular events.
Sources: Other; to: (27981572)
Voriconazole, moderate strength.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."

(23698643)
Clopidogrel, strong recommendation (though only shown in adult acute coronary syndrome / percutaneous coronary intervention).
Poor metabolizer: Significantly reduced platelet inhibition; increased residual platelet aggregation; increased risk for adverse cardiovascular events.
Sources: Other
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz gene: CYP2C19 was added
gene: CYP2C19 was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: CYP2C19 was set to Other
Publications for gene: CYP2C19 were set to 27981572
Added comment: (27981572)
Voriconazole, moderate level evidence.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."

(23698643)
Clopidogrel, strong evidence (though only shown in adult acute coronary syndrome / percutaneous coronary intervention).
Poor metabolizer: Significantly reduced platelet inhibition; increased residual platelet aggregation; increased risk for adverse cardiovascular events.
Sources: Other
Pharmacogenomics_Paediatric v0.33 CYP3A5 David Metz commented on gene: CYP3A5: Reduced bioavailability/clearance of tacrolimus.
Association with negative outcomes in kidney transplantation.
Pharmacogenomics_Paediatric v0.33 CYP2C9 David Metz reviewed gene: CYP2C9: Rating: ; Mode of pathogenicity: None; Publications: 18406467; Phenotypes: ; Mode of inheritance: None
Pharmacogenomics_Paediatric v0.33 CYP2D6 David Metz gene: CYP2D6 was added
gene: CYP2D6 was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: CYP2D6 was set to Other
Publications for gene: CYP2D6 were set to 18406467
Added comment: Genotype-phenotype concordance from 2 weeks of age (18406467)
Sources: Other
Pharmacogenomics_Paediatric v0.33 CYP3A5 David Metz reviewed gene: CYP3A5: Rating: ; Mode of pathogenicity: None; Publications: 25201288; Phenotypes: ; Mode of inheritance: None
Pharmacogenomics_Paediatric v0.33 VKORC1 Zornitza Stark Marked gene: VKORC1 as ready
Pharmacogenomics_Paediatric v0.33 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.33 VKORC1 Zornitza Stark Classified gene: VKORC1 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.33 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.32 VKORC1 Zornitza Stark gene: VKORC1 was added
gene: VKORC1 was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: VKORC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VKORC1 were set to 21900891; 28198005
Phenotypes for gene: VKORC1 were set to Warfarin resistance, MIM# 122700
Review for gene: VKORC1 was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.31 CYP2C9 Zornitza Stark Publications for gene: CYP2C9 were set to 25099164
Pharmacogenomics_Paediatric v0.30 CYP2C9 Zornitza Stark edited their review of gene: CYP2C9: Changed publications: 25099164, 21900891, 28198005
Pharmacogenomics_Paediatric v0.30 CYP3A5 Zornitza Stark Publications for gene: CYP3A5 were set to
Pharmacogenomics_Paediatric v0.29 CYP3A5 Zornitza Stark edited their review of gene: CYP3A5: Changed publications: 25801146
Pharmacogenomics_Paediatric v0.29 CYP2C9 Zornitza Stark Publications for gene: CYP2C9 were set to
Pharmacogenomics_Paediatric v0.28 CYP2C9 Zornitza Stark edited their review of gene: CYP2C9: Changed publications: 25099164
Pharmacogenomics_Paediatric v0.28 HLA-B Zornitza Stark Publications for gene: HLA-B were set to 25099164; 23695185
Pharmacogenomics_Paediatric v0.27 HLA-B Zornitza Stark edited their review of gene: HLA-B: Changed publications: 25099164, 23695185, 29392710
Pharmacogenomics_Paediatric v0.27 TPMT Zornitza Stark Publications for gene: TPMT were set to
Pharmacogenomics_Paediatric v0.26 TPMT Zornitza Stark edited their review of gene: TPMT: Changed publications: 21270794, 23422873, 30447069
Pharmacogenomics_Paediatric v0.26 NUDT15 Zornitza Stark Publications for gene: NUDT15 were set to
Pharmacogenomics_Paediatric v0.25 NUDT15 Zornitza Stark edited their review of gene: NUDT15: Changed publications: 21270794, 23422873, 30447069
Pharmacogenomics_Paediatric v0.25 HLA-B Zornitza Stark edited their review of gene: HLA-B: Changed publications: 25099164, 23695185
Pharmacogenomics_Paediatric v0.25 HLA-B Zornitza Stark Publications for gene: HLA-B were set to 25099164
Pharmacogenomics_Paediatric v0.24 HLA-B Zornitza Stark edited their review of gene: HLA-B: Changed publications: 23695185
Pharmacogenomics_Paediatric v0.24 HLA-B Zornitza Stark Publications for gene: HLA-B were set to
Pharmacogenomics_Paediatric v0.23 HLA-B Zornitza Stark edited their review of gene: HLA-B: Changed publications: 25099164
Pharmacogenomics_Paediatric v0.23 CACNA1S Zornitza Stark Marked gene: CACNA1S as ready
Pharmacogenomics_Paediatric v0.23 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.23 CACNA1S Zornitza Stark Classified gene: CACNA1S as Green List (high evidence)
Pharmacogenomics_Paediatric v0.23 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.22 CACNA1S Zornitza Stark gene: CACNA1S was added
gene: CACNA1S was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1S were set to 30499100
Phenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5}, MIM# 601887
Review for gene: CACNA1S was set to GREEN
Added comment: Two variants, c.520C>T; p.(Arg174Trp) and 3257G>A; p.(Arg1086His) have high level of evidence.
Sources: Expert list
Pharmacogenomics_Paediatric v0.21 RYR1 Zornitza Stark Publications for gene: RYR1 were set to
Pharmacogenomics_Paediatric v0.20 RYR1 Zornitza Stark edited their review of gene: RYR1: Changed publications: 30499100; Changed phenotypes: {Malignant hyperthermia susceptibility 1} 145600
Pharmacogenomics_Paediatric v0.20 NUDT15 Zornitza Stark Phenotypes for gene: NUDT15 were changed from {Thiopurines, poor metabolism of, 2} 616903; Azathioprine to {Thiopurines, poor metabolism of, 2} 616903; Azathioprine; Mercaptopurine
Pharmacogenomics_Paediatric v0.19 NUDT15 Zornitza Stark edited their review of gene: NUDT15: Changed phenotypes: {Thiopurines, poor metabolism of, 2} 616903, Azathioprine, Mercaptopurine
Pharmacogenomics_Paediatric v0.19 CYP2C9 Zornitza Stark edited their review of gene: CYP2C9: Added comment: Activity levels of CYP2C9 are at 1-2% of adult values in the fetus during the first trimester. These levels gradually increase to 30% of adult values at term. There is a high variability in these levels during the first 5 months of life, with levels eventually approaching adult values somewhere between 5 months and 2 years of age.; Changed phenotypes: Warfarin sensitivity, MIM# 122700, Phenytoin
Pharmacogenomics_Paediatric v0.19 TPMT Zornitza Stark Phenotypes for gene: TPMT were changed from {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine to {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine; Mercaptopurine
Pharmacogenomics_Paediatric v0.18 TPMT Zornitza Stark edited their review of gene: TPMT: Changed phenotypes: {Thiopurines, poor metabolism of, 1}, MIM# 610460, Azathioprine, Mercaptopurine
Pharmacogenomics_Paediatric v0.18 MT-RNR1 Zornitza Stark Marked gene: MT-RNR1 as ready
Pharmacogenomics_Paediatric v0.18 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.18 MT-RNR1 Zornitza Stark Tag mtDNA tag was added to gene: MT-RNR1.
Pharmacogenomics_Paediatric v0.18 MT-RNR1 Zornitza Stark Classified gene: MT-RNR1 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.18 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.17 MT-RNR1 Zornitza Stark gene: MT-RNR1 was added
gene: MT-RNR1 was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-RNR1 were set to Gentamicin toxicity
Review for gene: MT-RNR1 was set to GREEN
Added comment: m.1555A>G  and m.1494C>T
Sources: Expert list
Pharmacogenomics_Paediatric v0.16 NUDT15 Zornitza Stark Marked gene: NUDT15 as ready
Pharmacogenomics_Paediatric v0.16 NUDT15 Zornitza Stark Gene: nudt15 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.16 NUDT15 Zornitza Stark Classified gene: NUDT15 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.16 NUDT15 Zornitza Stark Gene: nudt15 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.15 NUDT15 Zornitza Stark gene: NUDT15 was added
gene: NUDT15 was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: NUDT15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NUDT15 were set to {Thiopurines, poor metabolism of, 2} 616903; Azathioprine
Review for gene: NUDT15 was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.14 HLA-B Zornitza Stark Marked gene: HLA-B as ready
Pharmacogenomics_Paediatric v0.14 HLA-B Zornitza Stark Gene: hla-b has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.14 HLA-B Zornitza Stark Classified gene: HLA-B as Green List (high evidence)
Pharmacogenomics_Paediatric v0.14 HLA-B Zornitza Stark Gene: hla-b has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.13 HLA-B Zornitza Stark gene: HLA-B was added
gene: HLA-B was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: HLA-B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HLA-B were set to Carbamazepine; Oxcarbamazepine; Phenytoin
Review for gene: HLA-B was set to GREEN
Added comment: HLA-B*1502
Sources: Expert list
Pharmacogenomics_Paediatric v0.12 HLA-A Zornitza Stark Marked gene: HLA-A as ready
Pharmacogenomics_Paediatric v0.12 HLA-A Zornitza Stark Gene: hla-a has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.12 HLA-A Zornitza Stark Classified gene: HLA-A as Green List (high evidence)
Pharmacogenomics_Paediatric v0.12 HLA-A Zornitza Stark Gene: hla-a has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.11 HLA-A Zornitza Stark gene: HLA-A was added
gene: HLA-A was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: HLA-A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HLA-A were set to Carbamazepine
Review for gene: HLA-A was set to GREEN
Added comment: HLA-A*3101
Sources: Expert list
Pharmacogenomics_Paediatric v0.10 CYP3A5 Zornitza Stark Marked gene: CYP3A5 as ready
Pharmacogenomics_Paediatric v0.10 CYP3A5 Zornitza Stark Gene: cyp3a5 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.10 CYP3A5 Zornitza Stark Classified gene: CYP3A5 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.10 CYP3A5 Zornitza Stark Gene: cyp3a5 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.9 CYP3A5 Zornitza Stark gene: CYP3A5 was added
gene: CYP3A5 was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: CYP3A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CYP3A5 were set to Tacrolimus
Review for gene: CYP3A5 was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.8 CYP2C9 Zornitza Stark Marked gene: CYP2C9 as ready
Pharmacogenomics_Paediatric v0.8 CYP2C9 Zornitza Stark Gene: cyp2c9 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.8 CYP2C9 Zornitza Stark Classified gene: CYP2C9 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.8 CYP2C9 Zornitza Stark Gene: cyp2c9 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.7 CYP2C9 Zornitza Stark gene: CYP2C9 was added
gene: CYP2C9 was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: CYP2C9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CYP2C9 were set to Warfarin sensitivity, MIM# 122700; Phenytoin
Review for gene: CYP2C9 was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.6 TPMT Zornitza Stark Marked gene: TPMT as ready
Pharmacogenomics_Paediatric v0.6 TPMT Zornitza Stark Gene: tpmt has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.6 TPMT Zornitza Stark Classified gene: TPMT as Green List (high evidence)
Pharmacogenomics_Paediatric v0.6 TPMT Zornitza Stark Gene: tpmt has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.5 TPMT Zornitza Stark gene: TPMT was added
gene: TPMT was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: TPMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPMT were set to {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine
Review for gene: TPMT was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.4 G6PD Zornitza Stark Marked gene: G6PD as ready
Pharmacogenomics_Paediatric v0.4 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.4 G6PD Zornitza Stark Classified gene: G6PD as Green List (high evidence)
Pharmacogenomics_Paediatric v0.4 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.3 G6PD Zornitza Stark gene: G6PD was added
gene: G6PD was added to Pharmacogenomics_Paediatric. Sources: Expert list
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)
Phenotypes for gene: G6PD were set to Haemolytic anemia, G6PD deficient (favism), MIM# 300908
Review for gene: G6PD was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.2 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Pharmacogenomics_Paediatric v0.2 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.2 RYR1 Zornitza Stark Classified gene: RYR1 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.2 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.1 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1} 145600
Review for gene: RYR1 was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.0 Zornitza Stark Added Panel Pharmacogenomics_Paediatric
Set panel types to: Australian Genomics