Aminoacidopathy
Gene: MCEEEnsemblGeneIds (GRCh38): ENSG00000124370
EnsemblGeneIds (GRCh37): ENSG00000124370
OMIM: 608419, Gene2Phenotype
MCEE is in 7 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease association with >10 probands reported with variants in this gene.
Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 09/07/2020 - https://search.clinicalgenome.org/CCID:005348
Sources: ClinGenCreated: 19 Jun 2024, 5:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mcee has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: MCEE was added gene: MCEE was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCEE were set to 16697227; 17823972; 27699154; 29104221; 30682498; 31146325 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