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Fetal anomalies v0.149 ALDOB Rebecca Foulger Source Expert Review Red was added to ALDOB.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.148 ALDOB Rebecca Foulger edited their review of gene: ALDOB: 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 not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted ALDOB gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.110 ALDOB Rebecca Foulger commented on gene: ALDOB: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HEREDITARY FRUCTOSE INTOLERANCE.
Fetal anomalies v0.109 ALDOB Rebecca Foulger Source Expert Review Amber was added to ALDOB.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.7 ALDOB Rebecca Foulger reviewed gene: ALDOB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 ALDOB Rebecca Foulger gene: ALDOB was added
gene: ALDOB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOB were set to HEREDITARY FRUCTOSE INTOLERANCE