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Cardiomyopathies - including childhood onset

Gene: MLYCD

Green List (high evidence)

MLYCD (malonyl-CoA decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000103150
EnsemblGeneIds (GRCh37): ENSG00000103150
OMIM: 606761, Gene2Phenotype
MLYCD is in 9 panels

3 reviews

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

James Eden (Manchester)

Green List (high evidence)

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

Phenotypes
Malonyl-CoA decarboxylase deficiency, 248360

Publications

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
Malonic aciduria; Mild clinical features. Developmental delay, epilepsy; HCM; 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • MetBioNet
  • Expert Review Green
  • MetBioNet
  • Expert Review Green
Phenotypes
  • 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
OMIM
606761
Clinvar variants
Variants in MLYCD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MLYCD were set to 27604308

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MLYCD.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

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