Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Fetal anomalies v0.223 | PROKR2 |
Rebecca Foulger Source Expert Review Red was added to PROKR2. Publications for gene PROKR2 were changed from to 17054399 Rating Changed from Green List (high evidence) to Red List (low evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | PROKR2 | Rebecca Foulger edited their review of gene: PROKR2: 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 PROKR2-associated Kallmann syndrome is not associated with structural features. Action taken: Demoted PROKR2 gene rating from Green to Red.; Changed rating: RED; Changed publications: 17054399 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PROKR2 | Rebecca Foulger commented on gene: PROKR2: DDG2P rating in original PAGE list: Confirmed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | PROKR2 | Rebecca Foulger reviewed gene: PROKR2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PROKR2 |
Rebecca Foulger gene: PROKR2 was added gene: PROKR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia 244200 |