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| Congenital Disorders of Glycosylation v0.84 | TMEM199 | Zornitza Stark Marked gene: TMEM199 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.84 | TMEM199 | Zornitza Stark Gene: tmem199 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.84 | TMEM199 | Zornitza Stark Classified gene: TMEM199 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.84 | TMEM199 | Zornitza Stark Gene: tmem199 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.57 | TMEM199 |
Paul De Fazio gene: TMEM199 was added gene: TMEM199 was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: TMEM199 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM199 were set to 26833330; 29321044 Phenotypes for gene: TMEM199 were set to Congenital disorder of glycosylation, type IIp MIM# 616829 Review for gene: TMEM199 was set to GREEN gene: TMEM199 was marked as current diagnostic Added comment: 4 patients from 3 unrelated families with a mild metabolic disorder primarily affecting the liver (PMID: 26833330). All patients had a type 2 pattern on serum transferrin isoelectric focusing (IEF), indicating abnormal N-glycosylation, as well as abnormal IEF of ApoC-III, indicating abnormal O-glycosylation. A follow up publication described 3 more unrelated cases with protein glycosylation deficiency, supporting the original paper (PMID: 29321044). Although this gene is red on PanelApp UK it has 2 green reviews (and no others). Sources: Literature |
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