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Cardiomyopathies - including childhood onset

Gene: MMACHC

Amber List (moderate evidence)

MMACHC (methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria)
EnsemblGeneIds (GRCh38): ENSG00000132763
EnsemblGeneIds (GRCh37): ENSG00000132763
OMIM: 609831, Gene2Phenotype
MMACHC is in 20 panels

3 reviews

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel. Therefore demoted from previous Green status to Amber.
Created: 3 Dec 2019, 1:59 p.m. | Last Modified: 3 Dec 2019, 1:59 p.m.
Panel Version: 0.53
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.

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)

I don't know

Methylmalonic aciduria and homocystinuria, cblC type OMIM#277400
Created: 25 Mar 2019, 4:30 p.m.
Cardiomyopathy is not a common feature of this disorder but this paper was published: Tampaiboon P et al (2012). Noncompaction of the ventricular myocardium and hydrops fetalis in Cobalamin C disease. JMID Reports 197:33-38. This article presents a case series of patients with cardiac involvement, can be HCM, DCM, LVNC and undefined. Recommended testing for cardiomyopathy patients here: Bowron & Olpin (2012). MetBioNet Best Practice Guidelines: Investigation of an inherited metabolic cause of cardiomyopathy. (www.metbio.net). Gizicki (2014) Ophthalmology 121: 381 PubMed: 24126030 - mainly neurological involvement.
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

History Filter Activity

3 Dec 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to MMACHC. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MMACHC.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: MMACHC was added gene: MMACHC was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 27604308 Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, 277400; DCM; Methylmalonic aciduria; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Hypertrophic-hypocontractile cardiomyopathy