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| Prepair 1000+ v1.1399 | SOST | Zornitza Stark Marked gene: SOST as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1399 | SOST | Zornitza Stark Gene: sost has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1399 | SOST | Zornitza Stark Phenotypes for gene: SOST were changed from Sclerosteosis 1, 269500 (3) to Sclerosteosis 1, OMIM#269500,MONDO:0010016 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1398 | SOST | Zornitza Stark Publications for gene: SOST were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1397 | SOST | Marta Cifuentes Ochoa reviewed gene: SOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 35160258, 21221996, 17853455, 30077757, 24594238; Phenotypes: Sclerosteosis 1, OMIM#269500,MONDO:0010016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1283 | HES7 | Zornitza Stark Phenotypes for gene: HES7 were changed from Spondylocostal dysostosis 4, autosomal recessive, 613686 (3) to Spondylocostal dysostosis 4, autosomal recessive MIM#60859 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1257 | HES7 | Clare Hunt reviewed gene: HES7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23897666, 18775957, 20087400; Phenotypes: Spondylocostal dysostosis 4, autosomal recessive MIM#60859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.935 | MESP2 | Zornitza Stark Phenotypes for gene: MESP2 were changed from Spondylocostal dysostosis 2, autosomal recessive, 608681 (3) to Spondylocostal dysostosis 2, MIM #608681 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.892 | MESP2 | Kate Scarff reviewed gene: MESP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18485326, 15122512, 20301771; Phenotypes: Spondylocostal dysostosis 2, MIM #608681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.727 | CTSK | Lilian Downie reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 33151655; Phenotypes: Pycnodysostosis MIM#265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.581 | BMPER | Lauren Thomas reviewed gene: BMPER: Rating: GREEN; Mode of pathogenicity: None; Publications: 20869035, 30006055, 15988748, 17764081; Phenotypes: Diaphanospondylodysostosis, MIM# 608022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.284 | DLL3 | Zornitza Stark Phenotypes for gene: DLL3 were changed from Spondylocostal dysostosis 1, autosomal recessive, 277300 (3) to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300; MONDO:0020692 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.191 | DLL3 | Marta Cifuentes Ochoa reviewed gene: DLL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10742114, 12746394, 36506336; Phenotypes: Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300, MONDO:0020692; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | MESP2 | Seb Lunke Added phenotypes Spondylocostal dysostosis 2, autosomal recessive, 608681 (3) for gene: MESP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | DLL3 | Seb Lunke Added phenotypes Spondylocostal dysostosis 1, autosomal recessive, 277300 (3) for gene: DLL3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | CTSK | Seb Lunke Added phenotypes Pycnodysostosis, 265800 (3) for gene: CTSK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | SOST |
Zornitza Stark gene: SOST was added gene: SOST was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SOST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SOST were set to Sclerosteosis 1, 269500 (3) |
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| Prepair 1000+ v0.0 | MESP2 |
Zornitza Stark gene: MESP2 was added gene: MESP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MESP2 were set to Spondylocostal dysostosis 2, autosomal recessive, 608681 (3) |
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| Prepair 1000+ v0.0 | HES7 |
Zornitza Stark gene: HES7 was added gene: HES7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive, 613686 (3) |
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| Prepair 1000+ v0.0 | DLL3 |
Zornitza Stark gene: DLL3 was added gene: DLL3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLL3 were set to Spondylocostal dysostosis 1, autosomal recessive, 277300 (3) |
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| Prepair 1000+ v0.0 | CTSK |
Zornitza Stark gene: CTSK was added gene: CTSK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSK were set to Pycnodysostosis, 265800 (3) |
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| Prepair 1000+ v0.0 | BMPER |
Zornitza Stark gene: BMPER was added gene: BMPER was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BMPER were set to Diaphanospondylodysostosis, 608022 (3) |
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