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Fetal anomalies v0.10 ABCA12 Zornitza Stark Marked gene: ABCA12 as ready
Fetal anomalies v0.10 ABCA12 Zornitza Stark Gene: abca12 has been classified as Green List (High Evidence).
Fetal anomalies v0.10 ABCA12 Zornitza Stark Phenotypes for gene: ABCA12 were changed from Ichthyosis, congenital, autosomal recessive 242500 to Ichthyosis, congenital, autosomal recessive 4B (harlequin), MIM# 242500
Fetal anomalies v0.9 ABCA12 Zornitza Stark reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 4B (harlequin), MIM# 242500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.0 ABCA12 Zornitza Stark gene: ABCA12 was added
gene: ABCA12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive 242500