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  3. MIPEP
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Fetal anomalies

Gene: MIPEP

Amber List (moderate evidence)
MIPEP (mitochondrial intermediate peptidase)
EnsemblGeneIds (GRCh38): ENSG00000027001
EnsemblGeneIds (GRCh37): ENSG00000027001
OMIM: 602241, Gene2Phenotype
MIPEP is in 5 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Louise Carr (North Thames Genomic Medicine Service)

I don't know

Poster at ISPD 2025 (Suzanna Lindsey-Temple, Liverpool Hospital, Sydney, Australia): fetus with growth restriction and cerebellar hypoplasia, MRI at 28weeks showed microcephaly, cystic changes in basal ganglia, cyst in cerebellar vermis. Compound het pathogenic variants p.(Tyr586Profs*2) and p.(His512Asp). 1 case reported with a compound het presenting with hypertrophic cardiomyopathy, severe lactic acidosis, and hypotonia (36727025). (27799064) Biallelic SNVs or CNVs in MIPEP found in 4 probands that have left ventricular non-compaction, developmental delay, seizures and hypotonia (can be detected on scans). (34620555) one case of a male with mild optic neuropathy, delayed psychomotor development, mild hypoplasia of the cerebellar vermis and bilateral atrophy however this was all reported in childhood. Amber, one case from poster has clear prenatal presentation but the published cases do not.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, MONDO:0014976; Combined oxidative phosphorylation deficiency-31, OMIM:617228

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, MONDO:0014976
  • Combined oxidative phosphorylation deficiency-31, OMIM:617228
OMIM
602241
Clinvar variants
Variants in MIPEP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: MIPEP was added gene: MIPEP was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MIPEP were set to 27799064; 34620555; 36727025 Phenotypes for gene: MIPEP were set to lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, MONDO:0014976; Combined oxidative phosphorylation deficiency-31, OMIM:617228