| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Prepair 1000+ v0.193 | GP1BA | Zornitza Stark Marked gene: GP1BA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | GP1BA | Zornitza Stark Gene: gp1ba has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.190 | GP1BA | Zornitza Stark Classified gene: GP1BA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.190 | GP1BA | Zornitza Stark Gene: gp1ba has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.189 | GP1BA | Zornitza Stark Tag for review was removed from gene: GP1BA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.188 | GP1BA | Zornitza Stark reviewed gene: GP1BA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.86 | GP1BA | Zornitza Stark Tag for review tag was added to gene: GP1BA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.61 | GP9 |
Crystle Lee gene: GP9 was added gene: GP9 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: GP9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GP9 were set to 8049428; 33553065; 32030720; 31484196 Phenotypes for gene: GP9 were set to Bernard-Soulier syndrome, type C (MIM#231200) Review for gene: GP9 was set to AMBER Added comment: Bernard-Soulier syndrome is a bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5. At least 3 unrelated families reported, animal model. Sources: Literature |
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| Prepair 1000+ v0.61 | GP1BA |
Crystle Lee gene: GP1BA was added gene: GP1BA was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: GP1BA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GP1BA were set to 21173099; 24934643; 18081445 Phenotypes for gene: GP1BA were set to Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS); von Willebrand disease, platelet-type, (MIM#177820), AD (VWD); MONDO:0008332; Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS); MONDO:0007930 Review for gene: GP1BA was set to AMBER Added comment: Bernard-Soulier syndrome is usually transmitted as a recessive trait with giant platelets and severe bleeding tendency. Sources: Literature |
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