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Fetal anomalies v0.161 IL11RA Rebecca Foulger edited their review of gene: IL11RA: 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 v0.37 IL11RA Rebecca Foulger commented on gene: IL11RA: Removed watchlist tag following clinical review by Anna de Burca.
Fetal anomalies v0.37 IL11RA Rebecca Foulger Tag watchlist was removed from gene: IL11RA.
Fetal anomalies v0.37 IL11RA Rebecca Foulger Phenotypes for gene: IL11RA were changed from Autosomal Recessive Craniosynostosis; Crouzon-like craniosynostosis to Autosomal Recessive Craniosynostosis; Crouzon-like craniosynostosis; Craniosynostosis and dental anomalies, 614188
Fetal anomalies v0.36 IL11RA Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI listed on OMIM for Craniosynostosis and dental anomalies, 614188.
Fetal anomalies v0.36 IL11RA Rebecca Foulger Mode of inheritance for gene: IL11RA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.35 IL11RA Rebecca Foulger Classified gene: IL11RA as Green List (high evidence)
Fetal anomalies v0.35 IL11RA Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following email correspondance from Anna de Burca. Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. Rated as 'Confirmed' for AR Craniosynostosis. As noted by Anna, IL11RA is Green on the Craniosynostosis panel, so Green rating also appropriate for Fetal Anomalies panel.
Fetal anomalies v0.35 IL11RA Rebecca Foulger Gene: il11ra has been classified as Green List (High Evidence).
Fetal anomalies v0.3 IL11RA Rebecca Foulger Tag watchlist tag was added to gene: IL11RA.
Fetal anomalies v0.3 IL11RA Rebecca Foulger commented on gene: IL11RA: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 IL11RA Rebecca Foulger reviewed gene: IL11RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 IL11RA Rebecca Foulger Added phenotypes Autosomal Recessive Craniosynostosis for gene: IL11RA
Fetal anomalies v0.1 IL11RA Rebecca Foulger gene: IL11RA was added
gene: IL11RA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL11RA were set to Crouzon-like craniosynostosis