ZMYND11

Chr 10AD

zinc finger MYND-type containing 11

Also known as: BRAM1, BS69, MRD30

NCBI Gene: 10771ENSG00000015171UniProt: Q15326OMIM: 608668

The protein encoded by ZMYND11 localizes to the nucleus and functions as a transcriptional repressor. Heterozygous loss-of-function mutations cause autosomal dominant intellectual developmental disorder. The gene is highly intolerant to loss-of-function variation, consistent with haploinsufficiency as the disease mechanism.

OMIMResearchSummary from RefSeq, OMIM, UniProt, Mechanism
LOFmechanismADLOEUF 0.121 OMIM phenotype
Clinical Summary— ZMYND11
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Gene-Disease Validity (ClinGen)
syndromic complex neurodevelopmental disorder · ADDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint
0.12LOEUF
pLI 1.000
Z-score 5.68
OE 0.03 (0.01–0.12)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint
3.71Z-score
OE missense 0.45 (0.39–0.51)
158 obs / 354.7 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.03 (0.01–0.12)
0≤0.351.4
Missense OE0.45 (0.39–0.51)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 1 / 39.6Missense obs/exp: 158 / 354.7Syn Z: -0.41
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
strongZMYND11-related intellectual disabilityLOFAD
DN
0.2099th %ile
GOF
0.2796th %ile
LOF
0.83top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · 1 literature citation · LOEUF 0.12

Literature Evidence

LOFHaploinsufficiency of the ZMYND11 gene may underlie the manifestations of 10p15.3 microdeletion syndrome.PMID:30950019

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZMYND11 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold
Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review.
Minale EMP et al.·Mol Genet Genomic Med
2026Open AccessReview
ZMYND11 p.Arg600Trp variant associated with a distinctive neurodevelopmental phenotype.
Yoshimatsu H et al.·Hum Genome Var
2026Open Access
Novel intermolecular zinc fingers and redox-driven conformational changes dictate tumor suppressor ZMYND11's role in cooperative recognition of diverse targets.
Bai X et al.·Nucleic Acids Res
2026Open Access
ZMYND11::MBTD1 Fusion in Myeloid/NK Cell Precursor Leukemia: A Case Report With Literature Review and Diagnostic Implications.
Liang H et al.·Pediatr Blood Cancer
2026Review
ZMYND11 functions in bimodal regulation of latent genes and brain-like splicing to safeguard corticogenesis.
Chang X et al.·Nat Commun
2025Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients