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| Fetal anomalies v0.560 | COG7 | Zornitza Stark Marked gene: COG7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.560 | COG7 | Zornitza Stark Gene: cog7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.560 | COG7 | Zornitza Stark Phenotypes for gene: COG7 were changed from COG7-CDG to Congenital disorder of glycosylation, type IIe , MIM#608779 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.559 | COG7 | Zornitza Stark Publications for gene: COG7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.558 | COG7 |
Zornitza Stark changed review comment from: CDG IIe is caused by variants that impair the integrity of the conserved oligomeric Golgi (COG) complex and alter Golgi trafficking, resulting in the disruption of multiple glycosylation pathways. Three families reported, IVS1+4A-C variant is recurrent, supportive functional data.; to: CDG IIe is caused by variants that impair the integrity of the conserved oligomeric Golgi (COG) complex and alter Golgi trafficking, resulting in the disruption of multiple glycosylation pathways. Three families reported, IVS1+4A-C variant is recurrent, supportive functional data. IUGR is a feature. |
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| Fetal anomalies v0.0 | COG7 |
Zornitza Stark gene: COG7 was added gene: COG7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG7 were set to COG7-CDG |
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