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Fetal anomalies v1.817 RNASEH2B Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from AICARDI-GOUTIERES SYNDROME 2 to Aicardi-Goutieres syndrome 2, OMIM:610181
Fetal anomalies v0.228 RNASEH2B Rebecca Foulger edited their review of gene: RNASEH2B: 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 v0.9 RNASEH2B Rebecca Foulger reviewed gene: RNASEH2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 RNASEH2B Rebecca Foulger gene: RNASEH2B was added
gene: RNASEH2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to AICARDI-GOUTIERES SYNDROME 2