Genomics England

MUT

methylmalonyl-CoA mutase

Panel	Mode of inheritance	Details
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Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes METHYLMALONIC ACIDURIA TYPE MUT 251000
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Methylmalonic aciduria, mut(0) type, 251000, METHYLMALONIC ACIDURIA TYPE MUT
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections., Methylmalonic aciduria, mut(0) type 251000, Methylmalonyl-CoA mutase deficiency (Organic acidurias)
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 3.44	BIALLELIC, autosomal or pseudoautosomal	Phenotypes DCM, Methylmalonic aciduria, mut(0) type 251000, Hypertrophic-hypocontractile cardiomyopathy, Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap, Methylmalonic aciduria, Methylmalonyl-CoA mutase deficiency (Organic acidurias), metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.