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Fetal anomalies v0.203 SC5D Seb Lunke Marked gene: SC5D as ready
Fetal anomalies v0.203 SC5D Seb Lunke Gene: sc5d has been classified as Green List (High Evidence).
Fetal anomalies v0.203 SC5D Seb Lunke Phenotypes for gene: SC5D were changed from LATHOSTEROLOSIS to Lathosterolosis, MIM#607330
Fetal anomalies v0.201 SC5D Seb Lunke Publications for gene: SC5D were set to
Fetal anomalies v0.200 SC5D Seb Lunke reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 12189593, 17853487; Phenotypes: Lathosterolosis, MIM#607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.0 SC5D Zornitza Stark gene: SC5D was added
gene: SC5D was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to LATHOSTEROLOSIS