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| BabyScreen+ newborn screening v1.114 | F5 | Tommy Li Added phenotypes Factor V deficiency, MIM# 227400 MONDO:0009210; {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055; Thrombophilia due to activated protein C resistance, MIM# 188055 MONDO:0008560 for gene: F5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.114 | DNAAF5 | Tommy Li Added phenotypes Primary ciliary dyskinesia for gene: DNAAF5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1696 | F5 | Zornitza Stark Marked gene: F5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1696 | F5 | Zornitza Stark Gene: f5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1696 | F5 | Zornitza Stark Phenotypes for gene: F5 were changed from Factor V deficiency MIM# 227400; Thrombophilia due to activated protein C resistance MIM# 188055 to Factor V deficiency, MIM# 227400 MONDO:0009210; Thrombophilia due to activated protein C resistance, MIM# 188055 MONDO:0008560; {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1695 | F5 | Zornitza Stark Classified gene: F5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1695 | F5 | Zornitza Stark Gene: f5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1694 | F5 | Zornitza Stark reviewed gene: F5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency, MIM# 227400 MONDO:0009210, Thrombophilia due to activated protein C resistance, MIM# 188055 MONDO:0008560, {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | DNAAF5 |
Zornitza Stark gene: DNAAF5 was added gene: DNAAF5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF5 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | F5 |
Zornitza Stark gene: F5 was added gene: F5 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: F5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: F5 were set to Factor V deficiency MIM# 227400; Thrombophilia due to activated protein C resistance MIM# 188055 |
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