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Fetal anomalies v1.871 GBA Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.
Fetal anomalies v1.871 GBA Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
Fetal anomalies v1.871 GBA Sarah Leigh commented on gene: GBA
Fetal anomalies v0.222 GBA2 Rebecca Foulger edited their review of gene: GBA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 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: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.177 GBA Rebecca Foulger Publications for gene: GBA were set to
Fetal anomalies v0.176 GBA Rebecca Foulger commented on gene: GBA: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in GBA from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Fetal anomalies v0.125 GBA Rebecca Foulger Classified gene: GBA as Green List (high evidence)
Fetal anomalies v0.125 GBA Rebecca Foulger Gene: gba has been classified as Green List (High Evidence).
Fetal anomalies v0.124 GBA Rebecca Foulger edited their review of gene: GBA: Added comment: GBA was on the Fetal anomalies panel as an Amber gene based on the DD-Gene2Phenotype rating of 'both DD and IF' for Gaucher diseases. Changed rating from Amber to Green based on Green rating on 'Fetal hydrops' panel (V.16). Lyn Chitty (Great Ormond Street) confirmed that this gene should be included on the Fetal anomalies panel.; Changed rating: GREEN
Fetal anomalies v0.110 GBA Rebecca Foulger commented on gene: GBA: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for GAUCHER DISEASE TYPE 1; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3; GAUCHER DISEASE.
Fetal anomalies v0.109 GBA Rebecca Foulger Source Expert Review Amber was added to GBA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.9 GBA2 Rebecca Foulger reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 GBA Rebecca Foulger reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 GBA2 Rebecca Foulger gene: GBA2 was added
gene: GBA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.
Fetal anomalies v0.1 GBA Rebecca Foulger Added phenotypes GAUCHER DISEASE for gene: GBA
Fetal anomalies v0.1 GBA Rebecca Foulger Added phenotypes GAUCHER DISEASE TYPE 3 for gene: GBA
Fetal anomalies v0.1 GBA Rebecca Foulger Added phenotypes GAUCHER DISEASE PERINATAL LETHAL for gene: GBA
Fetal anomalies v0.1 GBA Rebecca Foulger Added phenotypes GAUCHER DISEASE TYPE 2 for gene: GBA
Fetal anomalies v0.1 GBA Rebecca Foulger Added phenotypes GAUCHER DISEASE TYPE 3C for gene: GBA
Fetal anomalies v0.1 GBA Rebecca Foulger gene: GBA was added
gene: GBA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to GAUCHER DISEASE TYPE 1