Vitamin metabolism disorders
Gene: MCEEEnsemblGeneIds (GRCh38): ENSG00000124370
EnsemblGeneIds (GRCh37): ENSG00000124370
OMIM: 608419, Gene2Phenotype
MCEE is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
It is not directly involved in cobalamin (vitamin B12) metabolism, but serum B12 levels are measured in diagnosing this condition. Included as a differential diagnosis.
Sources: Expert listCreated: 12 Jun 2024, 2:41 a.m. | Last Modified: 13 Jun 2024, 12:09 a.m.
Panel Version: 1.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615
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
- Expert list
- Phenotypes
-
- methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615
- OMIM
- 608419
- Clinvar variants
- Variants in MCEE
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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 Vitamin metabolism disorders. Sources: Expert list Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCEE were set to 20301409 Phenotypes for gene: MCEE were set to methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615 Review for gene: MCEE was set to GREEN gene: MCEE was marked as current diagnostic