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| Fetal anomalies v0.135 | CRB1 |
Rebecca Foulger Source Expert Review Red was added to CRB1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.134 | CRB1 | Rebecca Foulger edited their review of gene: CRB1: 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: Mainly retinal phenotype. You can see cataracts on a pre-natal scan but in this case the cataracts are progressive and appear later. Action taken: Demoted CRB1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CRB1 | Rebecca Foulger reviewed gene: CRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | CRB1 | Rebecca Foulger Added phenotypes LEBER CONGENITAL AMAUROSIS 8 for gene: CRB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | CRB1 |
Rebecca Foulger gene: CRB1 was added gene: CRB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRB1 were set to RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE |
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