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| Fetal anomalies v1.860 | C11orf70 | Eleanor Williams Tag gene-checked tag was added to gene: C11orf70. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.225 | C11orf70 | Rebecca Foulger edited their review of gene: C11orf70: 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 v0.194 | C11orf70 | Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is 'confirmed' for PRIMARY CILIARY DYSKINESIA, the MOI was missing in Gene2Phenotype at the time when C11orf70 (CFAP300) was added to the Fetal anomalies panel. Therefore, set inheritance to 'biallelic' to match AR inheritance recorded in OMIM for Ciliary dyskinesia, primary, 38, 618063. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.194 | C11orf70 | Rebecca Foulger Mode of inheritance for gene: C11orf70 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.193 | C11orf70 | Rebecca Foulger commented on gene: C11orf70: Added 'new-gene-name' tag: C11orf70 has a new gene symbol in HGNC: CFAP300. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.193 | C11orf70 | Rebecca Foulger Tag new-gene-name tag was added to gene: C11orf70. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.193 | C11orf70 | Rebecca Foulger reviewed gene: C11orf70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.192 | C11orf70 |
Rebecca Foulger gene: C11orf70 was added gene: C11orf70 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: C11orf70 was set to Publications for gene: C11orf70 were set to 29727693; 29727692 Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA |
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