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Fetal anomalies v0.632 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Fetal anomalies v0.632 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Fetal anomalies v0.632 MMACHC Zornitza Stark Phenotypes for gene: MMACHC were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE to Methylmalonic aciduria and homocystinuria, cblC type, (MIM#277400)
Fetal anomalies v0.631 MMACHC Zornitza Stark Publications for gene: MMACHC were set to
Fetal anomalies v0.582 MMACHC Daniel Flanagan reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20631720, 16311595; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type, (MIM#277400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.0 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE