Activity
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| Fetal anomalies v4.192 | NUP188 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: NUP188. Tag Q3_24_NHS_review was removed from gene: NUP188. |
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| Fetal anomalies v4.192 | NUP188 | Achchuthan Shanmugasundram edited their review of gene: NUP188: 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 | NUP188 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NUP188. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.75 | NUP188 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NUP188. Tag Q3_24_NHS_review tag was added to gene: NUP188. |
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| Fetal anomalies v4.36 | NUP188 | Achchuthan Shanmugasundram commented on gene: NUP188 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NUP188 | Stephanie Allen reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: ; Publications: 28726809, 32021605, 32275884; Phenotypes: microcephaly, ID, Sandestig-Stefanova syndrome, OMIM:618804, structural brain abnormalities, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | NUP188 |
Achchuthan Shanmugasundram gene: NUP188 was added gene: NUP188 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP188 were set to 28726809; 32021605; 32275884 Phenotypes for gene: NUP188 were set to microcephaly; ID; Sandestig-Stefanova syndrome, OMIM:618804; structural brain abnormalities; cataract |
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