Cardiomyopathies - including childhood onsetGene: MLYCD
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
Cardiomyopathy is one of the main presenting features of this condition along with development delay, hypotonia, seizures, diarrhoea, vomiting and hypoglycemia (Genetics Home Reference).
Created: 26 Nov 2019, 11:49 a.m. | Last Modified: 26 Nov 2019, 11:52 a.m.
Panel Version: 0.13
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Malonyl-CoA decarboxylase deficiency, 248360
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.
Malonic aciduria; Mild clinical features. Developmental delay, epilepsy; HCM; Hypertrophic-hypocontractile cardiomyopathy
Publications for gene: MLYCD were set to 27604308
Source NHS GMS was added to MLYCD.
gene: MLYCD was added gene: MLYCD was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLYCD were set to 27604308 Phenotypes for gene: MLYCD were set to 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism); malonic aciduria; Hypertrophic-hypocontractile cardiomyopathy; Malonyl-CoA decarboxylase deficiency; Mild clinical features. Developmental delay, epilepsy; Malonic aciduria; Malonyl-CoA decarboxylase deficiency (Organic acidurias); HCM