Cardiomyopathies - including childhood onsetGene: MUT
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
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
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.
Methylmalonic aciduria; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; DCM; Hypertrophic-hypocontractile cardiomyopathy
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
Tag new-gene-name tag was added to gene: MUT.
Source NHS GMS was added to MUT.
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.