Cardiomyopathies - including childhood onsetGene: MMACHC
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
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.
Methylmalonic aciduria; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; DCM; Hypertrophic-hypocontractile cardiomyopathy
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
Source Expert Review Amber was added to MMACHC. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source NHS GMS was added to MMACHC.
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