Activity
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15 actions
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| Fetal anomalies v5.78 | SMPD1 |
Achchuthan Shanmugasundram Tag Q1_25_ demote_amber was removed from gene: SMPD1. Tag Q1_25_ NHS_review was removed from gene: SMPD1. |
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| Fetal anomalies v5.78 | SMPD1 | Achchuthan Shanmugasundram edited their review of gene: SMPD1: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | SMPD1 |
Achchuthan Shanmugasundram Source Expert Review Amber was added to SMPD1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v5.74 | SMPD1 |
Achchuthan Shanmugasundram Tag Q1_25_ demote_amber tag was added to gene: SMPD1. Tag Q1_25_ NHS_review tag was added to gene: SMPD1. |
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| Fetal anomalies v5.61 | SMPD1 | Achchuthan Shanmugasundram Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type B, OMIM:607616; NIEMANN-PICK DISEASE TYPE A; NIEMANN-PICK DISEASE TYPE B; Niemann-Pick disease, type A, OMIM:257200 to Niemann-Pick disease, type B, OMIM:607616; Niemann-Pick disease, type A, OMIM:257200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | SMPD1 | Achchuthan Shanmugasundram commented on gene: SMPD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | SMPD1 | Natalie Chandler reviewed gene: SMPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease, type A, MIM#257200, Niemann-Pick disease, type B, MIM#607616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | SMPD1 |
Achchuthan Shanmugasundram Source NHS GMS was added to SMPD1. Added phenotypes Niemann-Pick disease, type B, OMIM:607616; Niemann-Pick disease, type A, OMIM:257200 for gene: SMPD1 |
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| Fetal anomalies v0.311 | SMPD1 | Rebecca Foulger edited their review of gene: SMPD1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Green on the Fetal hydrops panel. Promote to Green on the Fetal anomalies panel. Mentioned in review of causes of Non immune hydrops.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.310 | SMPD1 |
Rebecca Foulger Source Expert Review Green was added to SMPD1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.165 | SMPD1 |
Rebecca Foulger Source Expert Review Red was added to SMPD1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.161 | SMPD1 | Rebecca Foulger edited their review of gene: SMPD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SMPD1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SMPD1 | Rebecca Foulger reviewed gene: SMPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SMPD1 | Rebecca Foulger Added phenotypes NIEMANN-PICK DISEASE TYPE B for gene: SMPD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SMPD1 |
Rebecca Foulger gene: SMPD1 was added gene: SMPD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMPD1 were set to NIEMANN-PICK DISEASE TYPE A |
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