| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Prepair 1000+ v1.3 | PEX16 | Seb Lunke Added phenotypes Peroxisome biogenesis disorder 8A, (Zellweger), 614876 for gene: PEX16 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | PEX13 | Seb Lunke Added phenotypes Peroxisome biogenesis disorder 11A (Zellweger), 614883 for gene: PEX13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | PEX12 | Seb Lunke Added phenotypes Peroxisome biogenesis disorder 3A (Zellweger), 614859 for gene: PEX12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | PEX10 | Seb Lunke Added phenotypes Peroxisome biogenesis disorder 6A (Zellweger), 614870 for gene: PEX10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | PEX1 | Seb Lunke Added phenotypes Peroxisome biogenesis disorder 1A (Zellweger), 214100 for gene: PEX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | PEX16 |
Zornitza Stark gene: PEX16 was added gene: PEX16 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A, (Zellweger), 614876 |
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| Prepair 1000+ v0.0 | PEX13 |
Zornitza Stark gene: PEX13 was added gene: PEX13 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger), 614883 |
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| Prepair 1000+ v0.0 | PEX12 |
Zornitza Stark gene: PEX12 was added gene: PEX12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859 |
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| Prepair 1000+ v0.0 | PEX11B |
Zornitza Stark gene: PEX11B was added gene: PEX11B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B, 614920 (3) |
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| Prepair 1000+ v0.0 | PEX10 |
Zornitza Stark gene: PEX10 was added gene: PEX10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger), 614870 |
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| Prepair 1000+ v0.0 | PEX1 |
Zornitza Stark gene: PEX1 was added gene: PEX1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger), 214100 |
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