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| Fetal anomalies v0.227 | PROK2 | Rebecca Foulger Publications for gene: PROK2 were set to 17054399 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.223 | PROK2 |
Rebecca Foulger Source Expert Review Red was added to PROK2. Publications for gene PROK2 were changed from 30712880 to 17054399 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.222 | PROK2 | Rebecca Foulger edited their review of gene: PROK2: 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: Phenotype is not fetally-relevant. Additional notes from clinical review: PMID:17054399 comments that PROK2-associated Kallmann syndrome is not associated with structural features. Action taken: Demoted PROK2 gene rating from Green to Red.; Changed rating: RED; Changed publications: 17054399 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.173 | PROK2 | Rebecca Foulger Publications for gene: PROK2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.172 | PROK2 | Rebecca Foulger commented on gene: PROK2: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PROK2 | Rebecca Foulger reviewed gene: PROK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PROK2 | Rebecca Foulger Added phenotypes Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 for gene: PROK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PROK2 |
Rebecca Foulger gene: PROK2 was added gene: PROK2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: PROK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PROK2 were set to Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 |
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