| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.4375 | SLC35C1 | Zornitza Stark Marked gene: SLC35C1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4375 | SLC35C1 | Zornitza Stark Gene: slc35c1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4375 | SLC35C1 | Zornitza Stark Phenotypes for gene: SLC35C1 were changed from CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4374 | SLC35C1 | Zornitza Stark Publications for gene: SLC35C1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4373 | SLC35C1 | Zornitza Stark Classified gene: SLC35C1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4373 | SLC35C1 | Zornitza Stark Gene: slc35c1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4372 | SLC35C1 |
Zornitza Stark changed review comment from: Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe DD/ID, mild dysmorphism, and impaired neutrophil motility. More than 5 unrelated families reported, note immune dysfunction is not always present. Microcephaly is a feature.; to: Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe DD/ID, mild dysmorphism, and impaired neutrophil motility. More than 5 unrelated families reported, note immune dysfunction is not always present. Microcephaly is a feature. Variable severity, some present in childhood. |
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| Fetal anomalies v0.4372 | SLC35C1 |
Zornitza Stark changed review comment from: Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe DD/ID, mild dysmorphism, and impaired neutrophil motility. More than 5 unrelated families reported, note immune dysfunction is not always present.; to: Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe DD/ID, mild dysmorphism, and impaired neutrophil motility. More than 5 unrelated families reported, note immune dysfunction is not always present. Microcephaly is a feature. |
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| Fetal anomalies v0.4372 | SLC35C1 | Zornitza Stark edited their review of gene: SLC35C1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC35C1 |
Zornitza Stark gene: SLC35C1 was added gene: SLC35C1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35C1 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C |
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