Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Prepair 500+ v1.597 | LPL | Zornitza Stark Phenotypes for gene: LPL were changed from Lipoprotein lipase deficiency, 238600 (3) to Lipoprotein lipase deficiency MIM#238600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 500+ v1.593 | LIPA | Zornitza Stark Marked gene: LIPA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 500+ v1.593 | LIPA | Zornitza Stark Gene: lipa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 500+ v1.593 | LIPA | Zornitza Stark Phenotypes for gene: LIPA were changed from Cholesteryl ester storage disease, 278000 (3) to Wolman disease, MIM#620151; Cholesteryl ester storage disease, MIM#278000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 500+ v1.592 | LIPA | Zornitza Stark Publications for gene: LIPA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 500+ v0.0 | LPL |
Seb Lunke gene: LPL was added gene: LPL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, 238600 (3) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 500+ v0.0 | LIPA |
Seb Lunke gene: LIPA was added gene: LIPA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease, 278000 (3) |