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Fetal anomalies v3.105 SLC12A1 Sarah Leigh commented on gene: SLC12A1
Fetal anomalies v3.105 SLC12A1 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A1.
Fetal anomalies v3.105 SLC12A1 Sarah Leigh Phenotypes for gene: SLC12A1 were changed from Bartter syndrome, type 1 601678 to Bartter syndrome, type 1, OMIM:601678; Bartter disease type 1, MONDO:0100344
Fetal anomalies v3.104 SLC12A1 Sarah Leigh Publications for gene: SLC12A1 were set to
Fetal anomalies v0.134 SLC12A1 Rebecca Foulger edited their review of gene: SLC12A1: 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 a Green gene.; Changed rating: GREEN
Fetal anomalies v0.9 SLC12A1 Rebecca Foulger reviewed gene: SLC12A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 SLC12A1 Rebecca Foulger gene: SLC12A1 was added
gene: SLC12A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1 601678