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Cardiomyopathies - including childhood onset

Gene: MUT

Green List (high evidence)

MUT (methylmalonyl-CoA mutase)
EnsemblGeneIds (GRCh38): ENSG00000146085
EnsemblGeneIds (GRCh37): ENSG00000146085
OMIM: 609058, Gene2Phenotype
MUT is in 12 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for MUT is MMUT
Created: 18 Dec 2019, 4:10 p.m. | Last Modified: 18 Dec 2019, 4:10 p.m.
Panel Version: 1.0

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

This gene was included in Table 1 for a diagnostic test from the MetBioNet guideline - see publications field for URL to the guideline.
Created: 18 Apr 2019, 11:53 a.m.
The new HGNC-approved symbol for this gene is MMUT.
Created: 18 Apr 2019, 11:42 a.m.

Phenotypes
Methylmalonic aciduria; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; DCM; Hypertrophic-hypocontractile cardiomyopathy

Publications

  • National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp

Rebecca Whittington (South West GLH)

Green List (high evidence)

Methylmalonic aciduria, mut(0) type OMIM#251000
Created: 25 Mar 2019, 4:30 p.m.
Xu J Pediatr Endocrinol Metab. 2013;26(9-10):903-8. doi: 10.1515/jpem-2013-0032: 6 day old infant died of congestive heart disease and found to have two pathogenic MUT variants. Recommended testing for cardiomyopathy patients here: Bowron & Olpin (2012). MetBioNet Best Practice Guidelines: Investigation of an inherited metabolic cause of cardiomyopathy. (www.metbio.net).
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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
OMIM
609058
Clinvar variants
Variants in MUT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Dec 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: MUT.

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MUT.

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: MUT was added gene: MUT was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUT were set to 27604308 Phenotypes for gene: MUT were set to 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.