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Mitochondrial disease

Gene: ME2

Red List (low evidence)
ME2 (malic enzyme 2)
EnsemblGeneIds (GRCh38): ENSG00000082212
EnsemblGeneIds (GRCh37): ENSG00000082212
OMIM: 154270, Gene2Phenotype
ME2 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single individual with a homozygous frameshift variant from a consanguineous family. The phenotype included developmental delay, microcephaly, mild brain atrophy, peripheral hypotonia, subtle dysmorphic features, ectopic kidney, and mild lactate elevation. Deletion of yeast ortholog of the gene resulted in growth arrest (which could be rescued).
Sources: Literature
Created: 9 Nov 2024, 6:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
inborn disorder of energy metabolism MONDO:0019243

Publications

Created: 9 Nov 2024, 6:58 a.m.

Panel version: 0.949

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • inborn disorder of energy metabolism MONDO:0019243
OMIM
154270
Clinvar variants
Variants in ME2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: me2 has been classified as Red List (Low Evidence).

9 Nov 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ME2 was added gene: ME2 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: ME2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ME2 were set to 39401966 Phenotypes for gene: ME2 were set to inborn disorder of energy metabolism MONDO:0019243 Review for gene: ME2 was set to RED