Activity
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| Fetal anomalies v4.192 | PCDH12 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PCDH12. Tag Q3_24_NHS_review was removed from gene: PCDH12. |
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| Fetal anomalies v4.192 | PCDH12 | Achchuthan Shanmugasundram edited their review of gene: PCDH12: 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 | PCDH12 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PCDH12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.78 | PCDH12 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PCDH12. Tag Q3_24_NHS_review tag was added to gene: PCDH12. |
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| Fetal anomalies v4.36 | PCDH12 | Achchuthan Shanmugasundram commented on gene: PCDH12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PCDH12 | Natalie Chandler reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: ; Publications: 30178464, 27164683; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | PCDH12 |
Achchuthan Shanmugasundram gene: PCDH12 was added gene: PCDH12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 30178464; 27164683 Phenotypes for gene: PCDH12 were set to Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280 |
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