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Fetal anomalies v0.161 STAG2 Rebecca Foulger edited their review of gene: STAG2: 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 STAG2 Rebecca Foulger reviewed gene: STAG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.115 STAG2 Rebecca Foulger gene: STAG2 was added
gene: STAG2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: STAG2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: STAG2 were set to 30158690; 29263825; 28296084
Phenotypes for gene: STAG2 were set to STAG2-related developmental delay with microcephaly and congenital anomalies