KANSL1 Chromosome 17
KAT8 regulatory NSL complex subunit 1
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What This Gene Does
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]
Gene Info
Gene Group
NSL histone acetyltransferase complex
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000120071
Associated Conditions (14)
Koolen-de Vries syndrome
KANSL1-related disorder
Inborn genetic diseases
Sarcoma
Craniosynostosis syndrome
Squamous cell carcinoma of the head and neck
Dysplastic corpus callosum
Intellectual disability
Chromatinopathy
Neurodevelopmental delay
See cases
Global developmental delay
Uterine corpus endometrial carcinoma
Congenital myopathy
Key Variants
RS1036089094
Conflicting classifications of pathogenicity
Koolen-de Vries syndrome, KANSL1-related disorder, Koolen-de Vries syndrome
Health Risk
RS1037585739
Conflicting classifications of pathogenicity
Koolen-de Vries syndrome, Inborn genetic diseases, Koolen-de Vries syndrome
Health Risk
RS1057520691
Conflicting classifications of pathogenicity
Koolen-de Vries syndrome, Koolen-de Vries syndrome
Health Risk
RS1057520758
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057521224
Conflicting classifications of pathogenicity
Koolen-de Vries syndrome, Koolen-de Vries syndrome
Health Risk
RS1057522661
Conflicting classifications of pathogenicity
Koolen-de Vries syndrome, Koolen-de Vries syndrome
Health Risk
RS1057523651
Conflicting classifications of pathogenicity
Koolen-de Vries syndrome, Koolen-de Vries syndrome
Health Risk
RS111514883
Conflicting classifications of pathogenicity
Koolen-de Vries syndrome, Koolen-de Vries syndrome
Health Risk
RS1189248208
Conflicting classifications of pathogenicity
Koolen-de Vries syndrome, Koolen-de Vries syndrome
Health Risk
RS1259929847
Conflicting classifications of pathogenicity
Koolen-de Vries syndrome, Koolen-de Vries syndrome
Health Risk
RS1315792143
Conflicting classifications of pathogenicity
Koolen-de Vries syndrome, Koolen-de Vries syndrome
Health Risk
RS1322831151
Conflicting classifications of pathogenicity
Koolen-de Vries syndrome, Koolen-de Vries syndrome
Health Risk
All Variants (218)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS771780488 | Health Risk | Likely pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS779806189 | Health Risk | Likely pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS797045049 | Health Risk | Likely pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS1018963624 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS1057518182 | Health Risk | Pathogenic | — |
| RS1064793433 | Health Risk | Pathogenic | — |
| RS1064794038 | Health Risk | Pathogenic | — |
| RS1064796289 | Health Risk | Pathogenic | — |
| RS1064796433 | Health Risk | Pathogenic | — |
| RS1374665357 | Health Risk | Pathogenic | — |
| RS1427624649 | Health Risk | Pathogenic | Inborn genetic diseases, Koolen-de Vries syndrome, Intellectual disability |
| RS1555575197 | Health Risk | Pathogenic | — |
| RS1555575405 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS1555575489 | Health Risk | Pathogenic | — |
| RS1555575816 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS1555734136 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS1567764119 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS1568366050 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS1597874008 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS1598441446 | Health Risk | Pathogenic | — |
| RS2041984041 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2046260021 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2046278091 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2077025601 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2077066093 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2077088526 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2077221203 | Health Risk | Pathogenic | Koolen-de Vries syndrome, KANSL1-related disorder, Koolen-de Vries syndrome |
| RS2078389049 | Health Risk | Pathogenic | Chromatinopathy, Chromatinopathy |
| RS2146314563 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2146370110 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2146486142 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2146658002 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2146659025 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2146947627 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2147733170 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2147739739 | Health Risk | Pathogenic | — |
| RS2147741933 | Health Risk | Pathogenic | — |
| RS2147746137 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2510387276 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2510405389 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2510470459 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2510481313 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2510499866 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2510500842 | Health Risk | Pathogenic | — |
| RS2510501074 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2510648438 | Health Risk | Pathogenic | Inborn genetic diseases, Koolen-de Vries syndrome, Inborn genetic diseases |
| RS2510649722 | Health Risk | Pathogenic | — |
| RS2510757178 | Health Risk | Pathogenic | See cases, See cases |
| RS2510758717 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2544352825 | Health Risk | Pathogenic | Koolen-de Vries syndrome, Koolen-de Vries syndrome |