| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.135 | MTRR |
Rebecca Foulger Source Expert Review Red was added to MTRR. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.135 | MTR |
Rebecca Foulger Source Expert Review Red was added to MTR. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.134 | MTRR | Rebecca Foulger edited their review of gene: MTRR: 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 MTRR gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | MTR | Rebecca Foulger edited their review of gene: MTR: 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 MTR gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MTRR | Rebecca Foulger reviewed gene: MTRR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MTR | Rebecca Foulger reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | MTRR |
Rebecca Foulger gene: MTRR was added gene: MTRR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTRR were set to HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE |
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| Fetal anomalies v0.1 | MTR |
Rebecca Foulger gene: MTR was added gene: MTR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTR were set to METHYLCOBALAMIN DEFICIENCY TYPE G |
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