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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)
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)
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)
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)
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)
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)