MUT

methylmalonyl-CoA mutase
OMIM: 609058, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green MUT in Ketotic hypoglycaemia Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.10	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. Tags new-gene-name
Green MUT in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes Methylmalonic aciduria, mut(0) type 251000 Tags new-gene-name
Green MUT in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.40	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Methylmalonic aciduria, mut(0) type 251000 Tags new-gene-name
Green MUT in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Methylmalonyl-CoA mutase deficiency (Organic acidurias) metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. Methylmalonic aciduria, mut(0) type 251000 Tags new-gene-name
Green MUT in Likely inborn error of metabolism Level 2: Metabolic Version 8.98 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green 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) Tags new-gene-name
Red MUT in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.157 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes METHYLMALONIC ACIDURIA TYPE MUT Tags new-gene-name
Green MUT in DDG2P Version 6.426 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLMALONIC ACIDURIA TYPE MUT 251000 Tags new-gene-name
Green MUT in Intellectual disability Level 2: Developmental disorders Version 9.304 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Methylmalonic aciduria, mut(0) type, 251000 METHYLMALONIC ACIDURIA TYPE MUT Tags new-gene-name
Red MUT in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.5 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Methylmalonic aciduria, mut(0) type Tags new-gene-name
Green MUT in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.98 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH MetBioNet Expert Review Green MetBioNet South West GLH Expert Review Green 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. Tags new-gene-name
Red MUT in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Red London North GLH Expert Review Red London North GLH Phenotypes Methylmalonic aciduria, mut(0) type 251000 Tags new-gene-name