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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 | WFS1 |
Bryony Thompson gene: WFS1 was added gene: WFS1 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: WFS1 were set to 27217304; 27185633 Phenotypes for gene: WFS1 were set to diabetes insipidus or optic atrophy; ?Cataract 41,116400; Wolfram syndrome, 222300; Deafness,autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; {Diabetes mellitus, noninsulin-dependent,association with}; Deafness, autosomal dominant 6/14/38, 600965; Wolfram-like syndrome, autosomal dominant, 614296 |
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| Transplant Co-Morbidity Superpanel v0.0 | PPARG |
Bryony Thompson gene: PPARG was added gene: PPARG was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPARG were set to FPLD3; Lipodystrophy, familial partial, type 3; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; Insulin resistance, severe, digenic; Obesity, severe, 601665; Carotid intimal medial thickness 1, 609338; Lipodystrophy, familial partial, type 3, 604367; {Diabetes, type 2}, 125853; Lipodystrophy, familial partial, type 3 604367; [Obesity, resistance to]; Insulin resistance, severe, digenic 604367; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic, 604367 |
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| Transplant Co-Morbidity Superpanel v0.0 | NEUROD1 |
Bryony Thompson gene: NEUROD1 was added gene: NEUROD1 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NEUROD1 were set to 10545951; 26773576; 26669242; 20573748 Phenotypes for gene: NEUROD1 were set to MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; Maturity-Onset Diabetes Of The Young; Permanent neonatal diabetes and cerebellar agenesis; MODY6; Maturity Onset Diabetes of the Young; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-onset diabetes of the young 6, 606394 |
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| Transplant Co-Morbidity Superpanel v0.0 | KCNJ11 |
Bryony Thompson gene: KCNJ11 was added gene: KCNJ11 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNJ11 were set to Diabetes mellitus, trans; Maturity Onset Diabetes of the Young (Dominant); Diabetes Mellitus, Permanent Neonatal; Transient Neonatal diabetes mellitus (Dominant); {Diabetes mellitus, type 2, susceptibility to}, 125853; Transient Neonatal Diabetes, Dominant; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Diabetes, permanent neonatal, 606176; Diabetes mellitus, transient neonatal, 3, 610582; Diabetes Mellitus, Transient Neonatal, 3; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; Maturity Onset Diabetes of the Young; Transient Neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2, 601820 Mode of pathogenicity for gene: KCNJ11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Transplant Co-Morbidity Superpanel v0.0 | INSR |
Bryony Thompson gene: INSR was added gene: INSR was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: INSR were set to 8288049 Phenotypes for gene: INSR were set to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; OMIM 610549; Rabson-Mendenhall syndrome, 262190; Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Hyperinsulinemic hypoglycemia, familial, 5, 609968; Leprechaunism, 246200; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS |
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| Transplant Co-Morbidity Superpanel v0.0 | INS |
Bryony Thompson gene: INS was added gene: INS was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: INS were set to Maturity Onset Diabetes of the Young (Dominant); Diabetes mellitus, type 1, 125852; Diabetes mellitus, insulin-dependent, 2, 125852; Transient Neonatal Diabetes, Dominant/Recessive; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Permanent Neonatal diabetes mellitus; Maturity Onset Diabetes of the Young; MODY10 |
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| Transplant Co-Morbidity Superpanel v0.0 | HNF4A |
Bryony Thompson gene: HNF4A was added gene: HNF4A was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNF4A were set to 28242437 Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026; MODY1, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young, Type 1 |
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| Transplant Co-Morbidity Superpanel v0.0 | HNF1B |
Bryony Thompson gene: HNF1B was added gene: HNF1B was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1B were set to Transient neonatal diabetes; RCAD; RENAL CYSTS AND DIABETES SYNDROME; Maturity-Onset Diabetes Of The Young; renal malformation; {Renal cell carcinoma}, 144700; Renal cysts and diabetes syndrome, 137920; Diabetes mellitus, noninsulin-dependent, 125853; Renal Cysts and Diabetes Syndrome |
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| Transplant Co-Morbidity Superpanel v0.0 | GCK |
Bryony Thompson gene: GCK was added gene: GCK was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GCK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: GCK were set to 19790256 Phenotypes for gene: GCK were set to Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485); MODY, type II, AD (MIM#125851); Diabetes mellitus, permanent neonatal 1, AR (MIM#606176); Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853) |
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| Transplant Co-Morbidity Superpanel v0.0 | AKT2 |
Bryony Thompson gene: AKT2 was added gene: AKT2 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AKT2 were set to 17327441; 15166380; 17576055 Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes |
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| Transplant Co-Morbidity Superpanel v0.0 | ABCC8 |
Bryony Thompson gene: ABCC8 was added gene: ABCC8 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ABCC8 were set to Diabetes mellitus, permanent neonatal, 6; Hyperinsulinemic hypoglycemia, familial, 1, 256450; DIABETES MELLITUS, NONINSULIN-DEPENDENT; transient neonatal diabetes (Dominant); Transient Neonatal Diabetes, Dominant; Diabetes mellitus, transient neonatal 2, 610374; Permanent Neonatal Diabetes Mellitus; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent Neonatal Diabetes Mellitus (recessive); Diabetes mellitus, noninsulin-dependent, 125853; Permanent neonatal diabetes mellitus; Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6 Mode of pathogenicity for gene: ABCC8 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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