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| Transplant Co-Morbidity Superpanel v0.4 | CYP2C9 |
Claire Fryer-Smith gene: CYP2C9 was added gene: CYP2C9 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list Mode of inheritance for gene: CYP2C9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CYP2C9 were set to 12893985 Phenotypes for gene: CYP2C9 were set to Tolbutamide poor metabolizer, Warfarin sensitivity MIM# 122700 Review for gene: CYP2C9 was set to GREEN Added comment: CYP2C9 is one of the major drug-metabolizing CYP450 isoforms. It is involved in guidelines for warfarin, phenytoin and NSAIDs (https://www.pharmgkb.org/gene/PA126). CYP2C9 is the cytochrome P450 enzyme responsible for the metabolism of the isomer of warfarin (see 122700) that is principally responsible for the anticoagulant effect of the drug. Persons with the genotype of impaired metabolism require lower doses of warfarin to achieve an anticoagulant effect similar to that in patients with the normal genotype and are more likely to have an excessive anticoagulant response (PMID: 10073515). Kirchheiner et al. (2003) (PMID: 12893985) studied the effects of CYP2C9 on celecoxib, a nonsteroidal antiinflammatory drug (NSAID) that is used to treat rheumatoid arthritis and osteoarthritis and exhibits antiinflammatory, analgesic, and antipyretic activity by selective inhibition of cyclooxygenase-2 (COX2; 600262). They found a more than 2-fold reduced oral clearance in homozygous carriers of CYP2C9*3; heterozygous carriers of 1 CYP2C9*3 allele were in between, whereas CYP2C9*2 had no significant influence on celecoxib pharmacokinetics. Sources: Expert list |
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| Transplant Co-Morbidity Superpanel v0.0 | TTR |
Bryony Thompson gene: TTR was added gene: TTR was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTR were set to 28475415; 35802134; 31554435 Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related MIM#105210 |
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| Transplant Co-Morbidity Superpanel v0.0 | RET |
Bryony Thompson gene: RET was added gene: RET was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB, MIM# 162300; Multiple endocrine neoplasia IIA, MIM# 171400 |
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| Transplant Co-Morbidity Superpanel v0.0 | RB1 |
Bryony Thompson gene: RB1 was added gene: RB1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RB1 were set to Retinoblastoma MONDO:0008380 |
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