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Likely inborn error of metabolism - targeted testing not possible v2.18 CHCHD10 Eleanor Williams Publications for gene: CHCHD10 were set to
Likely inborn error of metabolism - targeted testing not possible v2.17 CHCHD10 Eleanor Williams reviewed gene: CHCHD10: Rating: ; Mode of pathogenicity: None; Publications: 31261376; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v0.4 CHCHD10 Ellen McDonagh Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type for gene: CHCHD10
Likely inborn error of metabolism - targeted testing not possible v0.4 CHCHD10 Ellen McDonagh gene: CHCHD10 was added
gene: CHCHD10 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHCHD10 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type