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Gene: MLYCD

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

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

From babyscreen review

Gene-disease association: Strong. Malonyl-CoA decarboxylase deficiency is an uncommon inherited metabolic disease. The characteristic phenotype is variable, but may include developmental delay in early childhood, seizures, hypotonia, diarrhea, vomiting, metabolic acidosis, hypoglycemia, ketosis, abnormal urinary compounds, lactic acidemia, and hypertrophic cardiomyopathy.

Onset: Infancy

Severity: severe (variable severity but has early onset; detected by NBS)

Treatment: Yes. If not detected by newborn screening, most cases of MLYCDD present with metabolic decompensation characterized by severe metabolic acidosis and hypoglycemia, associated with poor prognosis. As a result of expanded newborn screening, more patients with MLYCDD have been identified prior to the onset of symptoms, allowing for early initiation of treatment and potential prevention of complications such as hypoglycemia, cognitive impairment and cardiomyopathy.
Created: 11 Oct 2024, 4:15 a.m. | Last Modified: 11 Oct 2024, 4:15 a.m.
Panel Version: 1.390

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 11 Oct 2024, 4:15 a.m.
Last Modified: 11 Oct 2024, 4:15 a.m.
Panel version: 1.390

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Malonyl-CoA decarboxylase deficiency, MIM#248360
OMIM
606761
Clinvar variants
Variants in MLYCD
Penetrance
None
Panels with this gene

History Filter Activity

11 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mlycd has been classified as Green List (High Evidence).

11 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MLYCD were changed from Malonyl-CoA decarboxylase deficiency, 248360 (3) to Malonyl-CoA decarboxylase deficiency, MIM#248360

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Malonyl-CoA decarboxylase deficiency, 248360 (3) for gene: MLYCD

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MLYCD was added gene: MLYCD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency, 248360 (3)