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Fetal anomalies v0.16 ABHD5 Zornitza Stark Publications for gene: ABHD5 were set to
Fetal anomalies v0.15 ABHD5 Zornitza Stark edited their review of gene: ABHD5: Changed publications: 30795549
Fetal anomalies v0.15 ABHD5 Zornitza Stark Marked gene: ABHD5 as ready
Fetal anomalies v0.15 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.15 ABHD5 Zornitza Stark Phenotypes for gene: ABHD5 were changed from CHANARIN-DORFMAN SYNDROME to Chanarin-Dorfman syndrome, MIM# 275630
Fetal anomalies v0.14 ABHD5 Zornitza Stark Classified gene: ABHD5 as Amber List (moderate evidence)
Fetal anomalies v0.14 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.13 ABHD5 Zornitza Stark reviewed gene: ABHD5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Chanarin-Dorfman syndrome, MIM# 275630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.0 ABHD5 Zornitza Stark gene: ABHD5 was added
gene: ABHD5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD5 were set to CHANARIN-DORFMAN SYNDROME