| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Transplant Co-Morbidity Superpanel v0.4 | MT-RNR1 |
Claire Fryer-Smith gene: MT-RNR1 was added gene: MT-RNR1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL Phenotypes for gene: MT-RNR1 were set to Deafness, mitochondrial, modifier of MIM# 580000 Review for gene: MT-RNR1 was set to GREEN Added comment: Multiple variations within the MT-RNR1 gene have been associated with the development of hearing loss in patients who receive aminoglycoside antibiotics. Aminoglycosides are a class of antibiotics that includes drugs such as streptomycin, kanamycin, gentamycin and tobramycin, among others. https://www.pharmgkb.org/gene/PA31274 The 1555A>G variation in the MT-RNR1 gene is strongly associated with the development of bilateral, sensorineural, nonsyndromic hearing loss following aminoglycoside antibiotic use: across 40 studies in either family pedigrees or groups of patients with hearing loss, 100% of those with the MT-RNR1 1555G variant who received an aminoglycoside antibiotic developed hearing loss. (PMID:9164619) Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Transplant Co-Morbidity Superpanel v0.4 | IFNL3 |
Claire Fryer-Smith gene: IFNL3 was added gene: IFNL3 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list Mode of inheritance for gene: IFNL3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: IFNL3 were set to 19749758; 19684573; 24752298 Phenotypes for gene: IFNL3 were set to Hepatitis C virus infection, response to therapy of MIM# 609532 Review for gene: IFNL3 was set to GREEN Added comment: https://www.pharmgkb.org/gene/PA134952671/overview IFNL3 encodes IL28B, a class II cytokine receptor. Suppiah et al., (2009) reported an association to sustained virological response (SVR) within the gene region encoding interleukin 28B. IL28B contributes to viral resistance and is known to be upregulated by interferons and by RNA virus infection. This data suggests that host genetics may be useful for the prediction of drug response, and they also support the investigation of the role of IL28B in the treatment of HCV and in other diseases treated with IFN-alpha. (PMID: 19749758) The CC genotype of rs12979860 was associated with an approximately 2-fold greater rate of SVR compared with the TT genotype (PMID: 19684573, 24752298). Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Transplant Co-Morbidity Superpanel v0.0 | DES |
Bryony Thompson gene: DES was added gene: DES was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DES were set to 23168288; 20423733; 20829228; 19879535; 22395865; 24200904; 29212896 Phenotypes for gene: DES were set to Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||