| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Transplant Co-Morbidity Superpanel v0.9 | CYP4F2 | Bryony Thompson Marked gene: CYP4F2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Transplant Co-Morbidity Superpanel v0.9 | CYP4F2 | Bryony Thompson Gene: cyp4f2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Transplant Co-Morbidity Superpanel v0.9 | CYP4F2 | Bryony Thompson Classified gene: CYP4F2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Transplant Co-Morbidity Superpanel v0.9 | CYP4F2 | Bryony Thompson Gene: cyp4f2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Transplant Co-Morbidity Superpanel v0.4 | CYP4F2 |
Claire Fryer-Smith gene: CYP4F2 was added gene: CYP4F2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list Mode of inheritance for gene: CYP4F2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP4F2 were set to 25370453; 20555338; 19207028; 18250228 Phenotypes for gene: CYP4F2 were set to Warfarin dosage sensitivity MIM# 122700 Review for gene: CYP4F2 was set to GREEN Added comment: It is involved in guidelines for warfarin https://www.pharmgkb.org/gene/PA27121/overview Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Transplant Co-Morbidity Superpanel v0.0 | SERPINF2 |
Bryony Thompson gene: SERPINF2 was added gene: SERPINF2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: SERPINF2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SERPINF2 were set to 10583218; 31441040; 29656168; 31282989; 2572590 Phenotypes for gene: SERPINF2 were set to Alpha-2-plasmin inhibitor deficiency, MIM# 262850 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Transplant Co-Morbidity Superpanel v0.0 | SDHAF2 |
Bryony Thompson gene: SDHAF2 was added gene: SDHAF2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHAF2 were set to Paragangliomas 2, MIM# 601650 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Transplant Co-Morbidity Superpanel v0.0 | NF2 |
Bryony Thompson gene: NF2 was added gene: NF2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF2 were set to Neurofibromatosis, type 2, MIM# 101000 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Transplant Co-Morbidity Superpanel v0.0 | F2 |
Bryony Thompson gene: F2 was added gene: F2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: F2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: F2 were set to 30297698 Phenotypes for gene: F2 were set to {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD; Dysprothrombinemia 613679 AR; Hypoprothrombinemia 613679 AR; Thrombophilia due to thrombin defect 188050 AD; {Stroke, ischemic, susceptibility to} 601367 Mu Mode of pathogenicity for gene: F2 was set to Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Transplant Co-Morbidity Superpanel v0.0 | EIF2B1 |
Bryony Thompson gene: EIF2B1 was added gene: EIF2B1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: EIF2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF2B1 were set to 31882561 Phenotypes for gene: EIF2B1 were set to Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||