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| Prepair 1000+ v1.1577 | LIPA | Lilian Downie Marked gene: LIPA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1577 | LIPA | Lilian Downie Gene: lipa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1577 | LIPA | Lilian Downie 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 1000+ v1.1576 | LIPA | Lilian Downie Publications for gene: LIPA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1568 | LIPA | Karina Sandoval reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374935, 11487567, 8617513, 21963785; Phenotypes: Wolman disease, MIM#620151, Cholesteryl ester storage disease, MIM#278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1009 | LPL | Zornitza Stark Phenotypes for gene: LPL were changed from Lipoprotein lipase deficiency, 238600 (3) to Lipoprotein lipase deficiency MIM#238600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.992 | LPL | Michelle Torres reviewed gene: LPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoprotein lipase deficiency MIM#238600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | LPL | Seb Lunke Added phenotypes Lipoprotein lipase deficiency, 238600 (3) for gene: LPL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | LIPA | Seb Lunke Added phenotypes Cholesteryl ester storage disease, 278000 (3) for gene: LIPA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | LPL |
Zornitza Stark gene: LPL was added gene: LPL was added to Reproductive Carrier Screen_VCGS. 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) |
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| Prepair 1000+ v0.0 | LIPC |
Zornitza Stark gene: LIPC was added gene: LIPC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LIPC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPC were set to Hepatic lipase deficiency, 614025 (3) |
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| Prepair 1000+ v0.0 | LIPA |
Zornitza Stark gene: LIPA was added gene: LIPA was added to Reproductive Carrier Screen_VCGS. 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) |
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