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Cardiomyopathy_Paediatric v1.253
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MMUT
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Zornitza Stark Marked gene: MMUT as ready
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Cardiomyopathy_Paediatric v1.253
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MMUT
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Zornitza Stark Gene: mmut has been classified as Amber List (Moderate Evidence).
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Cardiomyopathy_Paediatric v1.253
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MMUT
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Zornitza Stark Phenotypes for gene: MMUT were changed from Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Methylmalonic aciduria; Methylmalonic aciduria, mut(0) type 251000; DCM; Methylmalonyl-CoA mutase deficiency (Organic acidurias); Hypertrophic-hypocontractile cardiomyopathy; metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. to methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MONDO:0009612
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Cardiomyopathy_Paediatric v1.252
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MMUT
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Zornitza Stark Publications for gene: MMUT were set to 27604308
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Cardiomyopathy_Paediatric v1.251
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MMUT
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Zornitza Stark Classified gene: MMUT as Amber List (moderate evidence)
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Cardiomyopathy_Paediatric v1.251
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MMUT
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Zornitza Stark Gene: mmut has been classified as Amber List (Moderate Evidence).
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Cardiomyopathy_Paediatric v1.192
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MMUT
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Eleanor Ludington reviewed gene: MMUT: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33453710, 32754920; Phenotypes: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MONDO:0009612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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Cardiomyopathy_Paediatric v1.0
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MMUT
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Gene symbol changed from MUT to MMUT during gene set migration (ENSG00000146085 -> ENSG00000146085)
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