PET100

Chr 19AR

PET100 cytochrome c oxidase chaperone

NCBI Gene: 100131801ENSG00000229833UniProt: P0DJ07

Plays an essential role in mitochondrial complex IV maturation and assembly

Primary Disease Associations & Inheritance

Mitochondrial complex IV deficiency, nuclear type 12MIM #619055
AR
132
ClinVar variants
18
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— PET100
🧬
Gene-Disease Validity (ClinGen)
Leigh syndrome · ARModerate

Moderate evidence — consider for supplementary testing

2 total gene-disease associations curated

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
18 Pathogenic / Likely Pathogenic· 43 VUS of 132 total submissions

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.
1.82LOEUF
pLI 0.000
Z-score -0.06
OE 1.03 (0.53–1.82)
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.
0.24Z-score
OE missense 0.90 (0.69–1.17)
38 obs / 42.4 exp
Tolerant

Mild missense constraint

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.1.03 (0.53–1.82)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.90 (0.69–1.17)
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.0.54
0≤1.21.6
LoF obs/exp: 5 / 4.9Missense obs/exp: 38 / 42.4Syn Z: 1.37

ClinVar Variant Classifications

132 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
Likely Pathogenic7
VUS43
Likely Benign54
Benign12
Conflicting5
11
Pathogenic
7
Likely Pathogenic
43
VUS
54
Likely Benign
12
Benign
5
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
2
9
0
11
Likely Pathogenic
4
2
1
0
7
VUS
1
29
13
0
43
Likely Benign
0
6
36
12
54
Benign
0
1
10
1
12
Conflicting
—5
Total5406913132

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

View in ClinVar →

Protein Context — Lollipop Plot

PET100 · protein map & ClinVar variants

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

Gene2Phenotype Curations

PET100-related mitochondrial complex IV deficiency

strong
ARLoss Of FunctionAbsent Gene Product
Dev. DisordersEye
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Mitochondrial complex IV deficiency, nuclear type 12

MIM #619055

Molecular basis of disorder known

Autosomal recessive
📖
GeneReview available — PET100
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.
Oláhová M et al.·Eur J Hum Genet
2015Case report
Multiancestry sex-stratified genomic associations with HIV viral load and controller status from the ICGH.
Vergara C et al.·JCI Insight
2023
An Investigation of Lesion Detection Accuracy for Artificial Intelligence-Based Denoising of Low-Dose (64)Cu-DOTATATE PET Imaging in Patients with Neuroendocrine Neoplasms.
Loft M et al.·J Nucl Med
2023Cohort
Evaluation of the conserved subunit of the pathogenic Leptospira FlaB protein-based immunochromatographic test for the diagnosis of acute leptospirosis.
Sueasuay J et al.·Microbiol Spectr
2026
Automated detection of lung cancer at ultralow dose PET/CT by deep neural networks - Initial results.
Schwyzer M et al.·Lung Cancer
2018
A pilot study on lung cancer detection based on regional metabolic activity distribution in digital low-dose 18F-FDG PET.
Messerli M et al.·Br J Radiol
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