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Fetal anomalies v8.26 OPA1 Ida Ertmanska commented on gene: OPA1
Fetal anomalies v8.25 OPA1 Louise Carr reviewed gene: OPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26561570, 39233737; Phenotypes: Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type), OMIM:616896, Mitochondrial DNA depletion syndrome 14A (encephalomyopathic type), OMIM:621481; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v8.23 OPA1 Ida Ertmanska gene: OPA1 was added
gene: OPA1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: OPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: OPA1 were set to 26561570; 39233737
Phenotypes for gene: OPA1 were set to Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type), OMIM:616896; Mitochondrial DNA depletion syndrome 14A (encephalomyopathic type), OMIM:621481