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| Fetal anomalies v0.250 | TRAF7 | Rebecca Foulger Phenotypes for gene: TRAF7 were changed from Developmental Delay, Congenital Anomalies, and Dysmorphic Features to Developmental Delay, Congenital Anomalies, and Dysmorphic Features; Cardiac, facial, and digital anomalies with developmental delay, 618164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.249 | TRAF7 | Rebecca Foulger commented on gene: TRAF7: PMID:29961569 (Tokita et al, 2018 Table 1) list Prenatal ultrasound findings in five unrelated patients with the disorder 'Cardiac, facial, and digital anomalies with developmental delay' (MIM:618164) and TRAF7 missense variants. The prenatal findings include choroid plexus cyst, IUGR and cardiac defects. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.161 | TRAF7 | Rebecca Foulger edited their review of gene: TRAF7: 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 v0.116 | TRAF7 | Rebecca Foulger reviewed gene: TRAF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.115 | TRAF7 |
Rebecca Foulger gene: TRAF7 was added gene: TRAF7 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRAF7 were set to 29961569 Phenotypes for gene: TRAF7 were set to Developmental Delay, Congenital Anomalies, and Dysmorphic Features Mode of pathogenicity for gene: TRAF7 was set to Other - please provide details in the comments |
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