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| Fetal anomalies v0.135 | CIB2 |
Rebecca Foulger Source Expert Review Red was added to CIB2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.134 | CIB2 | Rebecca Foulger edited their review of gene: CIB2: 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: The phenotypes of deafness and Retinitis pigmentosa (part of Usher syndrome, type IJ) would not present prenatally. Action taken: Demoted CIB2 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CIB2 | Rebecca Foulger commented on gene: CIB2: DDG2P rating in original PAGE list: Confirmed for USHER SYNDROME TYPE 1J and Confirmed for NONSYNDROMIC DEAFNESS DFNB48. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | CIB2 | Rebecca Foulger reviewed gene: CIB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | CIB2 | Rebecca Foulger Added phenotypes NONSYNDROMIC DEAFNESS DFNB48 for gene: CIB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | CIB2 |
Rebecca Foulger gene: CIB2 was added gene: CIB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CIB2 were set to USHER SYNDROME TYPE 1J |
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