| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Disorders of Glycosylation v0.88 | CCDC115 | Zornitza Stark Marked gene: CCDC115 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.88 | CCDC115 | Zornitza Stark Gene: ccdc115 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.88 | CCDC115 | Zornitza Stark Classified gene: CCDC115 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.88 | CCDC115 | Zornitza Stark Gene: ccdc115 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.80 | CCDC115 |
Ain Roesley gene: CCDC115 was added gene: CCDC115 was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC115 were set to 26833332 Phenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo (MIM# 616828) Penetrance for gene: CCDC115 were set to unknown Review for gene: CCDC115 was set to GREEN Added comment: PMID: 26833332 - 8 affecteds from 5 families. Abnormal N-and mucin type O-glycosylation was found on serum proteins, and reduced metabolic labeling of sialic acids was found in fibroblasts. Sources: Literature |
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