| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| BabyScreen+ newborn screening v0.1969 | WDR1 | Zornitza Stark Marked gene: WDR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1969 | WDR1 | Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1969 | WDR1 | Zornitza Stark Classified gene: WDR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1969 | WDR1 | Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1968 | WDR1 |
Zornitza Stark Tag treatable tag was added to gene: WDR1. Tag immunological tag was added to gene: WDR1. Tag haematological tag was added to gene: WDR1. |
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| BabyScreen+ newborn screening v0.1958 | WDR1 |
Lilian Downie gene: WDR1 was added gene: WDR1 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR1 were set to PMID: 32960541, 27994071, 27557945 Phenotypes for gene: WDR1 were set to Periodic fever, immunodeficiency, and thrombocytopenia syndrome MIM#150550 Review for gene: WDR1 was set to GREEN Added comment: Strong gene disease association Phenotype is early onset immunodeficiency with infections ++ and severe stomatitis Treatable with bone marrow transplant. Sources: Expert list |
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| BabyScreen+ newborn screening v0.0 | WDR19 |
Zornitza Stark gene: WDR19 was added gene: WDR19 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were set to Nephronophthisis |
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