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Inborn errors of metabolism

Gene: MIPEP

Green List (high evidence)

MIPEP (mitochondrial intermediate peptidase)
EnsemblGeneIds (GRCh38): ENSG00000027001
EnsemblGeneIds (GRCh37): ENSG00000027001
OMIM: 602241, Gene2Phenotype
MIPEP is in 4 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in at least 4 cases.
Created: 25 Apr 2019, 4:11 p.m.
From an initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Sources: Expert list
Created: 25 Apr 2019, 4:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 31, 617228

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 31, 617228
OMIM
602241
Clinvar variants
Variants in MIPEP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: MIPEP was added gene: MIPEP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MIPEP were set to 27799064 Phenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, 617228