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| Fetal anomalies v0.311 | SLC39A13 | Rebecca Foulger commented on gene: SLC39A13: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: spondylodysplastic EDS phenotype. Keep SLC39A13 gene rating as Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.229 | SLC39A13 |
Rebecca Foulger Source Expert Review Red was added to SLC39A13. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.228 | SLC39A13 | Rebecca Foulger edited their review of gene: SLC39A13: 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: Phenotype is not fetally-relevant. Action taken: Demoted SLC39A13 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC39A13 | Rebecca Foulger commented on gene: SLC39A13: DDG2P rating in original PAGE list: Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION and Confirmed for EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | SLC39A13 | Rebecca Foulger reviewed gene: SLC39A13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SLC39A13 | Rebecca Foulger Added phenotypes EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA for gene: SLC39A13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SLC39A13 |
Rebecca Foulger gene: SLC39A13 was added gene: SLC39A13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION |
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