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| BabyScreen+ newborn screening v1.114 | ADA2 | Tommy Li Added phenotypes Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 for gene: ADA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1425 | ADA2 |
Zornitza Stark Tag for review was removed from gene: ADA2. Tag treatable tag was added to gene: ADA2. Tag immunological tag was added to gene: ADA2. |
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| BabyScreen+ newborn screening v0.1252 | ADA2 | Seb Lunke Classified gene: ADA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1252 | ADA2 | Seb Lunke Gene: ada2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1251 | ADA2 | Seb Lunke Marked gene: ADA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1251 | ADA2 | Seb Lunke Gene: ada2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1251 | ADA2 |
Seb Lunke gene: ADA2 was added gene: ADA2 was added to gNBS. Sources: Literature for review tags were added to gene: ADA2. Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 Review for gene: ADA2 was set to GREEN Added comment: Established gene-disease association. Childhood onset but variable, multisystem disorder with variable severity. Onset common <5 years Treatment: TNF inhibitor, hematopoietic stem cell transplantation, IL6 receptor antibody (tocilizumab) Non-genetic confirmatory test: plasma ADA2 enzyme activity Sources: Literature |
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