| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Disorders of Glycosylation v0.72 | ATP6AP1 | Zornitza Stark Marked gene: ATP6AP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.72 | ATP6AP1 | Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.72 | ATP6AP1 | Zornitza Stark Classified gene: ATP6AP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.72 | ATP6AP1 | Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.57 | ATP6AP1 |
Ain Roesley gene: ATP6AP1 was added gene: ATP6AP1 was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: ATP6AP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6AP1 were set to PMID: 27231034 Phenotypes for gene: ATP6AP1 were set to immunodeficiency-47 (MIM# 300972) Penetrance for gene: ATP6AP1 were set to unknown Review for gene: ATP6AP1 was set to GREEN Added comment: PMID: 27231034 - 11 males from 6 families with defective glycosylation Sources: Literature |
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