Hyperammonaemia
Gene: MLYCD

MLYCD (malonyl-CoA decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000103150
EnsemblGeneIds (GRCh37): ENSG00000103150
OMIM: 606761, Gene2Phenotype
MLYCD is in 8 panels

3 reviews

Peter Clayton (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Malonyl-CoA decarboxylase deficiency, malonic aciduria

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Seven variants reported in six un-related cases.
Created: 8 Sep 2016, 7:37 a.m.

Created: 8 Sep 2016, 7:37 a.m.

Panel version: 0.121

Ellen McDonagh (Genomics England Curator)

Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.

Created: 5 Nov 2015, 5:19 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN
Emory Genetics Laboratory

Phenotypes

malonic aciduria
Malonyl-CoA decarboxylase deficiency 248360

OMIM

606761

Clinvar variants

Variants in MLYCD

Penetrance

Complete

Publications

Panels with this gene