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Fetal anomalies v0.737 ELAC2 Zornitza Stark Marked gene: ELAC2 as ready
Fetal anomalies v0.737 ELAC2 Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence).
Fetal anomalies v0.737 ELAC2 Zornitza Stark Phenotypes for gene: ELAC2 were changed from INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY to Combined oxidative phosphorylation deficiency 17, MIM#615440
Fetal anomalies v0.736 ELAC2 Zornitza Stark Publications for gene: ELAC2 were set to
Fetal anomalies v0.735 ELAC2 Belinda Chong reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775, 31045291; Phenotypes: Combined oxidative phosphorylation deficiency 17 MIM#615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.0 ELAC2 Zornitza Stark gene: ELAC2 was added
gene: ELAC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELAC2 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY