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| Fetal anomalies v0.135 | C2orf71 |
Rebecca Foulger Source Expert Review Red was added to C2orf71. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.134 | C2orf71 | Rebecca Foulger edited their review of gene: C2orf71: 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: Phenotype is not fetally-relevant. Additional notes from clinical review: Retinitis pigmentosa has adult onset with two patients reported with an earlier onset. Action taken: Demoted C2orf71 (PCARE) gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | C2orf71 | Rebecca Foulger commented on gene: C2orf71: DDG2P rating in original PAGE list: Confirmed for RETINITIS PIGMENTOSA 54 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | C2orf71 | Rebecca Foulger Tag new-gene-name tag was added to gene: C2orf71. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | C2orf71 | Rebecca Foulger commented on gene: C2orf71: Added new-gene-name tag, new approved HGNC gene symbol is PCARE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | C2orf71 | Rebecca Foulger reviewed gene: C2orf71: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | C2orf71 |
Rebecca Foulger gene: C2orf71 was added gene: C2orf71 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: C2orf71 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C2orf71 were set to RETINITIS PIGMENTOSA 54 |
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