RMND1

Chr 6AR

required for meiotic nuclear division 1 homolog

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

NCBI Gene: 55005 ENSG00000155906 UniProt: Q9NWS8 OMIM: 614917

The protein is required for mitochondrial translation, possibly by coordinating assembly or maintenance of the mitochondrial ribosome. Mutations cause combined oxidative phosphorylation deficiency 11, inherited in an autosomal recessive pattern. The gene shows minimal constraint against loss-of-function variants (pLI near 0), which is consistent with its recessive inheritance pattern.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

DNmechanismARLOEUF 1.111 OMIM phenotype

Clinical Summary— RMND1

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Gene-Disease Validity (ClinGen)

mitochondrial disease · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

55 unique Pathogenic / Likely Pathogenic· 141 VUS of 383 total submissions

Explore recent and relevant literature in Research Assistant →

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GeneReview available — RMND1

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

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?

0.77Z-score

OE missense 0.86 (0.77–0.97)

201 obs / 233.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.74 (0.50–1.11)

0≤0.351.4

Missense OE?0.86 (0.77–0.97)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 17 / 23.0Missense obs/exp: 201 / 233.9Syn Z: -0.04

Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗

strongRMND1-related encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defectOTHERAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

0.6550th %ile

GOF

0.5759th %ile

LOF

0.3648th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

383 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic30

Likely Pathogenic25

VUS141

Likely Benign111

Benign52

Conflicting12

Pathogenic

Likely Pathogenic

141

VUS

111

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	19	7	4	0	30
Likely Pathogenic	21	4	0	0	25
VUS	1	118	17	5	141
Likely Benign	0	3	69	39	111
Benign	0	5	43	4	52
Conflicting	—				12
Total	41	137	133	48	371

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

View in ClinVar →

22 pathogenic / likely-pathogenic (of 25) ClinVar copy-number / structural variants overlap RMND1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →