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  3. MLYCD
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Cardiomyopathy_Paediatric

Gene: MLYCD

Green List (high evidence)
MLYCD (malonyl-CoA decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000103150
EnsemblGeneIds (GRCh37): ENSG00000103150
OMIM: 606761, Gene2Phenotype
MLYCD is in 11 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • malonic aciduria
  • 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism)
  • Malonic aciduria
  • Malonyl-CoA decarboxylase deficiency (Organic acidurias)
  • Mild clinical features. Developmental delay, epilepsy
  • Malonyl-CoA decarboxylase deficiency
  • HCM
  • Hypertrophic-hypocontractile cardiomyopathy
Tags
treatable
OMIM
606761
Clinvar variants
Variants in MLYCD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: MLYCD.

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MLYCD was added gene: MLYCD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLYCD were set to 27604308; 12955715; 7609455; 9177981 Phenotypes for gene: MLYCD were set to malonic aciduria; 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism); Malonic aciduria; Malonyl-CoA decarboxylase deficiency (Organic acidurias); Mild clinical features. Developmental delay, epilepsy; Malonyl-CoA decarboxylase deficiency; HCM; Hypertrophic-hypocontractile cardiomyopathy