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| Fetal anomalies v0.226 | TAPT1 |
Rebecca Foulger Source Expert Review Green was added to TAPT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v0.225 | TAPT1 | Rebecca Foulger edited their review of gene: TAPT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 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: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.63 | TAPT1 | Rebecca Foulger edited their review of gene: TAPT1: Added comment: Rated as 'Probable' in original PAGE list. Rated Green on the Osteogenesis imperfecta V1.14 panel, and phenotype (COMPLEX LETHAL OSTEOCHONDRODYSPLASIA) is appropriate for Fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). However, kept rating as Amber for now based on insufficient evidence to support causation: 2 families (Moroccan and Syrian) reported in OMIM with no further cases identified from the literature.; Changed publications: 26365339; Changed phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TAPT1 | Rebecca Foulger reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | TAPT1 |
Rebecca Foulger gene: TAPT1 was added gene: TAPT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAPT1 were set to COMPLEX LETHAL OSTEOCHONDRODYSPLASIA |
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