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| Fetal anomalies v0.161 | SLC26A2 | Rebecca Foulger edited their review of gene: SLC26A2: 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: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC26A2 | Rebecca Foulger commented on gene: SLC26A2: DDG2P rating in original PAGE list: Confirmed for ACHONDROGENESIS TYPE 1B, Confirmed for ATELOSTEOGENESIS TYPE 2, Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4, and Confirmed for DIASTROPHIC DYSPLASIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | SLC26A2 | Rebecca Foulger reviewed gene: SLC26A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SLC26A2 | Rebecca Foulger Added phenotypes DIASTROPHIC DYSPLASIA for gene: SLC26A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SLC26A2 | Rebecca Foulger Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 for gene: SLC26A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SLC26A2 | Rebecca Foulger Added phenotypes ATELOSTEOGENESIS TYPE 2 for gene: SLC26A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SLC26A2 |
Rebecca Foulger gene: SLC26A2 was added gene: SLC26A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A2 were set to ACHONDROGENESIS TYPE 1B |
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