Miscellaneous Metabolic Disorders
Gene: MCEEEnsemblGeneIds (GRCh38): ENSG00000124370
EnsemblGeneIds (GRCh37): ENSG00000124370
OMIM: 608419, Gene2Phenotype
MCEE is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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 GMSCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mcee has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mcee has been classified as Green List (High Evidence).
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