Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.

Onset ranges from the neonatal period to adulthood. All phenotypes demonstrate periods of relative health and intermittent metabolic decompensation, usually associated with intercurrent infections and stress. Episodes of catabolic stress are associated with rapid production and accumulation of toxic metabolites which can cause decompensation, and lead to life threatening complications.

Treatment: carnitine and diet.
Created: 30 Dec 2022, 1:55 a.m. | Last Modified: 30 Dec 2022, 1:55 a.m.
Panel Version: 0.1773

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonyl-CoA epimerase deficiency MIM#251120

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Methylmalonyl-CoA epimerase deficiency MIM#251120
Tags
treatable metabolic
OMIM
608419
Clinvar variants
Variants in MCEE
Penetrance
None
Panels with this gene

History Filter Activity

17 Jan 2023, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: MCEE.

30 Dec 2022, 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).

30 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MCEE were changed from Methylmalonyl-CoA epimerase deficiency to Methylmalonyl-CoA epimerase deficiency MIM#251120

30 Dec 2022, 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).

30 Dec 2022, Gel status: 1

Added Tag, Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: MCEE. Tag treatable tag was added to gene: MCEE. Tag metabolic tag was added to gene: MCEE.

18 Sep 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MCEE was added gene: MCEE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCEE were set to Methylmalonyl-CoA epimerase deficiency