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| Transplant Co-Morbidity Superpanel v0.4 | SLCO1B1 |
Claire Fryer-Smith gene: SLCO1B1 was added gene: SLCO1B1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list Mode of inheritance for gene: SLCO1B1 was set to Other Publications for gene: SLCO1B1 were set to 19952871; 5152405; 35968761 Phenotypes for gene: SLCO1B1 were set to Hyperbilirubinemia, Rotor type, digenic MIM# 237450 Review for gene: SLCO1B1 was set to GREEN Added comment: It is involved in guidelines for statins including CPIC guidelines for atorvastatin, simvastatin, and rosuvastatin. It is also implicated in a range of pharmacogenomic responses: https://www.pharmgkb.org/gene/PA134865839 Rotor type hyperbilirubinemia (HBLRR) is caused by digenic inheritance of homozygous mutations in the SLCO1B1 (MIM# 604843) and SLCO1B3 (MIM# 605495) genes. Van de Steeg et al. (2012) (PMID: 22232210) suggested that individuals with Rotor syndrome may also be at increased risk for drug toxicity, since these proteins are involved in the clearance of drug conjugates. SLCO1B1 single nucleotide polymorphisms and haplotypes have been implicated in altered pharmacokinetic handling and pharmacodynamic response The solute carrier organic anion transporter family member 1B1 (SLCO1B1) gene encodes for a membrane-bound sodium-independent organic anion transporter protein (OATP1B1). OATP1B1 mediates active transport of many endogenous substrates, such as bile acids, xenobiotic compounds, and a wide panel of pharmaceutical compounds. (PMID: 19952871) SLCO1B1 variants are known to be a strong predictor of statin-associated muscle symptoms (SAMS) risk with simvastatin (PMID: 5152405). Allelic variants of SLCO1B1 and ABCB1 predict the lipid-lowering efficacy of atorvastatin (PMID:35968761). Sources: Expert list |
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| Transplant Co-Morbidity Superpanel v0.0 | UQCRFS1 |
Bryony Thompson gene: UQCRFS1 was added gene: UQCRFS1 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCRFS1 were set to 31883641 Phenotypes for gene: UQCRFS1 were set to fetal bradycardia; Mitochondrial Complex III deficiency; hypertrophic cardiomyopathy; lactic acidosis; alopecia totalis |
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| Transplant Co-Morbidity Superpanel v0.0 | MPL |
Bryony Thompson gene: MPL was added gene: MPL was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPL were set to 11133753 Phenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, MIM# 604498 |
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