Activity
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6 actions
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| Additional findings_Paediatric v0.2 | CR2 |
Zornitza Stark gene: CR2 was added gene: CR2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CR2 were set to Hypogammaglobulinaemia |
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| Additional findings_Paediatric v0.2 | NAGLU |
Zornitza Stark gene: NAGLU was added gene: NAGLU was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGLU were set to Sanfilippo syndrome type B |
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| Additional findings_Paediatric v0.2 | BTK | Zornitza Stark Added phenotypes Agammaglobulinemia, X-linked 1 for gene: BTK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | AGL | Zornitza Stark Added phenotypes Glycogen storage disease IIIa for gene: AGL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | BTK |
Zornitza Stark gene: BTK was added gene: BTK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BTK were set to Agammaglobulinemia, X-linked 1 |
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| Additional findings_Paediatric v0.0 | AGL |
Zornitza Stark gene: AGL was added gene: AGL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGL were set to Glycogen storage disease IIIa |
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