Activity
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| Fetal anomalies v4.192 | MAN2C1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MAN2C1. Tag Q3_24_NHS_review was removed from gene: MAN2C1. |
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| Fetal anomalies v4.192 | MAN2C1 | Achchuthan Shanmugasundram edited their review of gene: MAN2C1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | MAN2C1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MAN2C1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.72 | MAN2C1 | Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Congenital disorder of deglycosylation 2, MIM# 619775 to Congenital disorder of deglycosylation 2, OMIM:619775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.71 | MAN2C1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAN2C1. Tag Q3_24_NHS_review tag was added to gene: MAN2C1. |
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| Fetal anomalies v4.36 | MAN2C1 | Achchuthan Shanmugasundram commented on gene: MAN2C1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MAN2C1 | Natalie Bibb reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35045343; Phenotypes: Congenital disorder of deglycosylation 2, MIM# 619775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | MAN2C1 |
Achchuthan Shanmugasundram gene: MAN2C1 was added gene: MAN2C1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2C1 were set to 35045343 Phenotypes for gene: MAN2C1 were set to Congenital disorder of deglycosylation 2, MIM# 619775 |
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