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Mitochondrial disease

Gene: MIEF2

Red List (low evidence)
MIEF2 (mitochondrial elongation factor 2)
EnsemblGeneIds (GRCh38): ENSG00000177427
EnsemblGeneIds (GRCh37): ENSG00000177427
OMIM: 615498, Gene2Phenotype
MIEF2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported.
Sources: Expert list
Created: 12 Apr 2020, 7:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 49, MIM# 619024; Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency

Publications

Created: 12 Apr 2020, 7:52 a.m.

Panel version: 0.504

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 49, MIM# 619024
  • Progressive muscle weakness
  • Exercise intolerance
  • Ragged red and COX negative fibres
  • Complex I and IV deficiency
OMIM
615498
Clinvar variants
Variants in MIEF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MIEF2 were changed from Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency to Combined oxidative phosphorylation deficiency 49, MIM# 619024; Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency

12 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mief2 has been classified as Red List (Low Evidence).

12 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MIEF2 was added gene: MIEF2 was added to Mitochondrial disease. Sources: Expert list 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 Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency Review for gene: MIEF2 was set to RED