Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Transplant Co-Morbidity Superpanel v0.0 | LPL |
Bryony Thompson gene: LPL was added gene: LPL was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familial |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Transplant Co-Morbidity Superpanel v0.0 | LMF1 |
Bryony Thompson gene: LMF1 was added gene: LMF1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LMF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMF1 were set to Combined lipase deficiency |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Transplant Co-Morbidity Superpanel v0.0 | LIPC |
Bryony Thompson gene: LIPC was added gene: LIPC was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: LIPC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LIPC were set to 1671786; 12777476; 23219720; 26423094; 1883393; 22464213 Phenotypes for gene: LIPC were set to Inherited mixed hyperlipidaemias; Hepatic lipase deficiency MIM#614025; hyperalphalipoproteinemia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Transplant Co-Morbidity Superpanel v0.0 | LIPA |
Bryony Thompson gene: LIPA was added gene: LIPA was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPA were set to Wolman disease, Cholesterol ester storage disease |