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| Fetal anomalies v0.134 | GJA8 | Rebecca Foulger edited their review of gene: GJA8: 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: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GJA8 | Rebecca Foulger commented on gene: GJA8: DDG2P rating in original PAGE list: Confirmed for CATARACT ZONULAR PULVERULENT TYPE 1 and Confirmed for CATARACT-MICROCORNEA SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | GJA8 | Rebecca Foulger reviewed gene: GJA8: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | GJA8 | Rebecca Foulger Added phenotypes CATARACT-MICROCORNEA SYNDROME for gene: GJA8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | GJA8 |
Rebecca Foulger gene: GJA8 was added gene: GJA8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GJA8 were set to CATARACT ZONULAR PULVERULENT TYPE 1 |
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