RMND1

Chr 6AR

required for meiotic nuclear division 1 homolog

Also known as: C6orf96, COXPD11, RMD1, bA351K16, bA351K16.3

NCBI Gene: 55005ENSG00000155906UniProt: Q9NWS8

The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

Primary Disease Associations & Inheritance

Combined oxidative phosphorylation deficiency 11MIM #614922
AR
394
ClinVar variants
76
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— RMND1
🧬
Gene-Disease Validity (ClinGen)
mitochondrial disease · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
76 Pathogenic / Likely Pathogenic· 142 VUS of 394 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.
1.11LOEUF
pLI 0.000
Z-score 1.17
OE 0.74 (0.50–1.11)
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.
0.77Z-score
OE missense 0.86 (0.77–0.97)
201 obs / 233.9 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.0.74 (0.50–1.11)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.86 (0.77–0.97)
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.1.01
0≤1.21.6
LoF obs/exp: 17 / 23.0Missense obs/exp: 201 / 233.9Syn Z: -0.04

ClinVar Variant Classifications

394 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic49
Likely Pathogenic27
VUS142
Likely Benign111
Benign53
Conflicting12
49
Pathogenic
27
Likely Pathogenic
142
VUS
111
Likely Benign
53
Benign
12
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
17
7
25
0
49
Likely Pathogenic
17
4
6
0
27
VUS
0
115
22
5
142
Likely Benign
0
3
69
39
111
Benign
0
5
44
4
53
Conflicting
—12
Total3413416648394

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

View in ClinVar →

Protein Context — Lollipop Plot

RMND1 · protein map & ClinVar variants

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

Gene2Phenotype Curations

RMND1-related encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect

strong
ARUndeterminedAltered Gene Product Structure
Dev. Disorders
G2P ↗
missense variantinframe deletioninframe insertion

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Combined oxidative phosphorylation deficiency 11

MIM #614922

Molecular basis of disorder known

Autosomal recessive
📖
GeneReview available — RMND1
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT et al.·Genome Med
2023
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Dunning AM et al.·Nat Genet
2016Meta-analysis
Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease.
Kömhoff M et al.·Pediatr Nephrol
2024
Primary ovarian insufficiency in RMND1 mitochondrial disease.
Boros E et al.·Mitochondrion
2022Case report
Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement.
Oziębło D et al.·Genes (Basel)
2020Case report
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
Ulrick N et al.·Pediatr Neurol
2017
Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.
Marsili L et al.·Pediatr Nephrol
2025Case report
RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making.
Broenen E et al.·Arch Pediatr
2019Review
Characterization of the renal phenotype in RMND1-related mitochondrial disease.
Shayota BJ et al.·Mol Genet Genomic Med
2019Case report
Hearing impairment and renal failure associated with RMND1 mutations.
Ravn K et al.·Am J Med Genet A
2016Case report
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