| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Prepair 1000+ v1.3 | DDX11 | Seb Lunke Added phenotypes Warsaw breakage syndrome, 613398 (3) for gene: DDX11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | ARSA | Seb Lunke Added phenotypes Metachromatic leukodystrophy, 250100 (3) for gene: ARSA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | FLNB |
Zornitza Stark gene: FLNB was added gene: FLNB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FLNB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLNB were set to Spondylocarpotarsal synostosis syndrome, 272460 (3) |
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| Prepair 1000+ v0.0 | DDX11 |
Zornitza Stark gene: DDX11 was added gene: DDX11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDX11 were set to Warsaw breakage syndrome, 613398 (3) |
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| Prepair 1000+ v0.0 | ARSA |
Zornitza Stark gene: ARSA was added gene: ARSA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy, 250100 (3) |
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