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Fetal anomalies

Gene: MLYCD

Green List (high evidence)

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

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Fetal presentation includes hypertrophic cardiomyopathy and abnormalities of cortical development
Created: 30 Jan 2022, 10:25 p.m. | Last Modified: 30 Jan 2022, 10:25 p.m.
Panel Version: 0.2939

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Clinical features are variable, and include developmental delay in early childhood, seizures, hypotonia, diarrhoea, vomiting, metabolic acidosis, hypoglycaemia, ketosis, abnormal urinary compounds, lactic acidaemia, and hypertrophic cardiomyopathy.
Created: 30 Dec 2020, 10:11 p.m. | Last Modified: 30 Dec 2020, 10:11 p.m.
Panel Version: 0.3364

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Malonyl-CoA decarboxylase deficiency, MIM# 248360

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Malonyl-CoA decarboxylase deficiency, MIM# 248360
OMIM
606761
Clinvar variants
Variants in MLYCD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MLYCD were set to

30 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

30 Jan 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: MLYCD were changed from MALONYL-COA DECARBOXYLASE DEFICIENCY to Malonyl-CoA decarboxylase deficiency, MIM# 248360

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLYCD were set to MALONYL-COA DECARBOXYLASE DEFICIENCY