Mitochondrial disorders
Gene: MIEF2EnsemblGeneIds (GRCh38): ENSG00000177427
EnsemblGeneIds (GRCh37): ENSG00000177427
OMIM: 615498, Gene2Phenotype
MIEF2 is in 1 panel
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
PMID:29361167 reported a single individual with biallelic MIEF2 variant (p.Gln9Ter) and with combined oxidative phosphorylation deficiency-49.
This gene has been associated with relevant phenotype in OMIM (MIM #619024), but not in Gene2Phenotype.Created: 11 Dec 2023, 3:56 p.m. | Last Modified: 11 Dec 2023, 3:56 p.m.
Panel Version: 4.117
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 49, OMIM:619024
Publications
Hannah Knight (NIHR BioResource - University of Cambridge)
PMID: 29361167 (2018) reported a 15-year-old boy, born of consanguineous Jewish parents, with combined oxidative phosphorylation deficiency-49 and a homozygous nonsense variant in the MIEF2 gene (Q92X). Patient skeletal muscle and fibroblasts showed a combined decrease in mitochondrial respiratory chain enzymes, particularly complexes I and IV, elongated mitochondria with abnormal cristae, decreased mitochondrial fission, and increased fusion events. The cellular phenotype could be rescued by expression of wildtype MIEF2. The findings were consistent with a defect in mitochondrial dynamics
Sources: LiteratureCreated: 4 Dec 2023, 1:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 49
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- ?Combined oxidative phosphorylation deficiency 49, OMIM:619024
- OMIM
- 615498
- Clinvar variants
- Variants in MIEF2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: MIEF2 were changed from ?Combined oxidative phosphorylation deficiency 49 to ?Combined oxidative phosphorylation deficiency 49, OMIM:619024
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: mief2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Hannah Knight (NIHR BioResource - University of Cambridge)gene: MIEF2 was added gene: MIEF2 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: MIEF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MIEF2 were set to 29361167 Phenotypes for gene: MIEF2 were set to ?Combined oxidative phosphorylation deficiency 49 Review for gene: MIEF2 was set to AMBER