This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: MCEE
MCEE (methylmalonyl-CoA epimerase)
EnsemblGeneIds (GRCh38): ENSG00000124370
EnsemblGeneIds (GRCh37): ENSG00000124370
OMIM: 608419, Gene2Phenotype
MCEE is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000124370
EnsemblGeneIds (GRCh37): ENSG00000124370
OMIM: 608419, Gene2Phenotype
MCEE is in 8 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: In OMIM and Gene2Phenotype associated with Methylmalonyl-CoA epimerase deficiency (MIM:251120). 2 cases of reported homozygous variants in MCEE and phenotypes including ID but both individuals also have a SNV in the SPR gene which better explains the phenotype. Bikker H et al 2006 (PMID:16752391), Mazzuca et al 2015 (PMID:25763508).Created: 8 Mar 2018, 2:32 p.m.
Details
- Sources
-
- Expert Review Red
- Phenotypes
-
- Methylmalonyl-CoA epimerase deficiency 251120
- OMIM
- 608419
- Clinvar variants
- Variants in MCEE
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
8 Mar 2018, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for MCEE were set to Methylmalonyl-CoA epimerase deficiency 251120
8 Mar 2018, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for MCEE were set to 16752391; 25763508
8 Mar 2018, Gel status: 1
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MCEE was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red
18 Dec 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)MCEE was created by Ellen McDonagh