KANSL1

Chr 17AD

KAT8 regulatory NSL complex subunit 1

Also known as: C17DELq21.31, CENP-36, DEL17Q21.31, KDVS, KIAA1267, MSL1v1, NSL1, hMSL1v1

NCBI Gene: 284058ENSG00000120071UniProt: Q7Z3B3OMIM: 612452

This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The encoded protein has been implicated in a variety of cellular processes including enhancer regulation, cell proliferation, and mitosis. Mutations in this gene are associated with Koolen-de Vries Syndrome. [provided by RefSeq, May 2022]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Koolen-De Vries syndromeMIM #610443
AD

Clinical highlights

Gene-disease validity (ClinGen)
Koolen-de Vries syndrome · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
46
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.24
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — KANSL1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.24LOEUF
pLI 1.000
Z-score 5.75
OE 0.12 (0.07–0.24)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.23Z-score
OE missense 0.86 (0.80–0.93)
551 obs / 638.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.12 (0.07–0.24)
0≤0.351.4
Missense OE?0.86 (0.80–0.93)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 6 / 49.8Missense obs/exp: 551 / 638.3Syn Z: -0.81

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KANSL1 · protein map & ClinVar variants

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

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