TOMM7

Chr 7

translocase of outer mitochondrial membrane 7

Also known as: GMPGS, TOM7

NCBI Gene: 54543ENSG00000196683UniProt: Q9P0U1

This gene encodes a subunit of the translocase of the outer mitochondrial membrane. The encoded protein regulates the assembly and stability of the translocase complex. [provided by RefSeq, Oct 2012]

Primary Disease Associations & Inheritance

UniProtGarg-Mishra progeroid syndrome
48
ClinVar variants
33
Pathogenic / LP
0.01
pLI score
0
Active trials
Clinical Summary— TOMM7
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
33 Pathogenic / Likely Pathogenic· 15 VUS of 48 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.76LOEUF
pLI 0.010
Z-score 0.34
OE 0.81 (0.36–1.76)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.15Z-score
OE missense 1.08 (0.81–1.46)
31 obs / 28.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.81 (0.36–1.76)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.08 (0.81–1.46)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.79
0≤1.21.6
LoF obs/exp: 3 / 3.7Missense obs/exp: 31 / 28.7Syn Z: -1.96

ClinVar Variant Classifications

48 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic30
Likely Pathogenic3
VUS15
30
Pathogenic
3
Likely Pathogenic
15
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
1
28
0
30
Likely Pathogenic
0
1
2
0
3
VUS
1
7
7
0
15
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total2937048

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TOMM7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Identification and validation of extracellular vesicle reference genes for the normalization of RT-qPCR data.
Pinheiro C et al.·J Extracell Vesicles
2024
Mitochondria-associated programmed cell death: elucidating prognostic biomarkers, immune checkpoints, and therapeutic avenues in multiple myeloma.
Gao G et al.·Front Immunol
2024
Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.
Li CY et al.·EBioMedicine
2024
Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome.
Yeole M et al.·Am J Med Genet A
2025Case report
Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant.
Garg A et al.·J Clin Invest
2022Case report
Growth Hormone Response in a Child With a Homozygous TOMM7 Mutation: Novel Therapeutic Insights.
Liu S et al.·Am J Case Rep
2025Case report
[Association of genetic variants in TOMM7 gene and gene environment interaction with type 2 diabetes in Chinese Dong population].
Liu L et al.·Zhong Nan Da Xue Xue Bao Yi Xue Ban
2015
Genetic variants are identified to increase risk of COVID-19 related mortality from UK Biobank data.
Hu J et al.·Hum Genomics
2021
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools