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| Fetal anomalies v0.186 | C5orf42 | Rebecca Foulger edited their review of gene: C5orf42: Added comment: Additional evidence from PMID:30712878: Homozgyous variant identified in C5orf42 (called CPLANE1 in Table 1) from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.185 | C5orf42 | Rebecca Foulger edited their review of gene: C5orf42: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in C5orf42 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | C5orf42 | Rebecca Foulger edited their review of gene: C5orf42: 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 v0.9 | C5orf42 | Rebecca Foulger commented on gene: C5orf42: DDG2P rating in original PAGE list: Confirmed for JOUBERT SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | C5orf42 | Rebecca Foulger Tag new-gene-name tag was added to gene: C5orf42. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | C5orf42 | Rebecca Foulger commented on gene: C5orf42: Added new-gene-name tag, new approved HGNC gene symbol is CPLANE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | C5orf42 | Rebecca Foulger reviewed gene: C5orf42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | C5orf42 |
Rebecca Foulger gene: C5orf42 was added gene: C5orf42 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C5orf42 were set to JOUBERT SYNDROME |
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