Vitamin metabolism 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)

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 list
Created: 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

13 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

12 Jun 2024, 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 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