1. Panels
  2. Hyperammonaemia
  3. MLYCD
STRs in panel
Prev Next
Regions in panel
Prev Next

Hyperammonaemia

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

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, 10:09 p.m. | Last Modified: 30 Dec 2020, 10:09 p.m.
Panel Version: 0.5882

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Malonyl-CoA decarboxylase deficiency, MIM# 248360

Publications

Created: 30 Dec 2020, 10:09 p.m.
Last Modified: 30 Dec 2020, 10:09 p.m.
Panel version: Imported from Mendeliome panel version 0.5882

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Malonyl-CoA decarboxylase deficiency 248360
  • malonic aciduria
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.

29 Jan 2021, 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 Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLYCD were set to 10455107; 10417274; 12955715 Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency 248360; malonic aciduria