Activity
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| Fetal anomalies v4.192 | SMAD2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SMAD2. Tag Q3_24_NHS_review was removed from gene: SMAD2. |
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| Fetal anomalies v4.192 | SMAD2 | Achchuthan Shanmugasundram edited their review of gene: SMAD2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | SMAD2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMAD2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.96 | SMAD2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SMAD2. Tag Q3_24_NHS_review tag was added to gene: SMAD2. |
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| Fetal anomalies v4.36 | SMAD2 | Achchuthan Shanmugasundram commented on gene: SMAD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SMAD2 | Denise Williams reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30157302, 29967133, 23665959; Phenotypes: Loeys-Dietz syndrome 6, OMIM:619656, Congenital heart defects, multiple types, 8, with or without heterotaxy, OMIM:619657; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | SMAD2 |
Achchuthan Shanmugasundram gene: SMAD2 was added gene: SMAD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD2 were set to 30157302; 29967133; 23665959 Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome 6, OMIM:619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, OMIM:619657 |
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