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Fetal anomalies v0.135 AIPL1 Rebecca Foulger Source Expert Review Red was added to AIPL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.134 AIPL1 Rebecca Foulger edited their review of gene: AIPL1: 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. Action taken: Demoted AIPL1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.9 AIPL1 Rebecca Foulger reviewed gene: AIPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 AIPL1 Rebecca Foulger gene: AIPL1 was added
gene: AIPL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIPL1 were set to LEBER CONGENITAL AMAUROSIS 4