Miscellaneous Metabolic Disorders

Gene: MCEE

Green List (high evidence)

MCEE (methylmalonyl-CoA epimerase)
EnsemblGeneIds (GRCh38): ENSG00000124370
EnsemblGeneIds (GRCh37): ENSG00000124370
OMIM: 608419, Gene2Phenotype
MCEE is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Over 10 cases with biallelic variants reported. Methylmalonic acidemia is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid and peptide metabolism.
Sources: NHS GMS
Created: 5 Feb 2021, 11:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonyl-CoA epimerase deficiency MIM#251120; Organic acidurias

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Methylmalonyl-CoA epimerase deficiency MIM#251120
  • Organic acidurias
OMIM
608419
Clinvar variants
Variants in MCEE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

5 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MCEE was added gene: MCEE was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCEE were set to 27604308; 16752391; 32521958; 31146325; 32719376; 30682498 Phenotypes for gene: MCEE were set to Methylmalonyl-CoA epimerase deficiency MIM#251120; Organic acidurias Review for gene: MCEE was set to GREEN gene: MCEE was marked as current diagnostic