KAT6A Chromosome 8
Lysine acetyltransferase 6A
Upload your DNA to see your personal genotypes for variants in KAT6A.
What This Gene Does
This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with an autosomal dominant form of cognitive disability. Chromosomal translocations of this gene are associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"PHD finger proteins|MYST type domain containing lysine acetyltransferases|Zinc fingers MYST C2HC-type"
Locus Type
gene with protein product
Location
8p11.21
Ensembl
ENSG00000083168
Associated Conditions (12)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Inborn genetic diseases
KAT6A-related disorder
Intellectual disability
History of neurodevelopmental disorder
See cases
Glioma susceptibility 1
Autism spectrum disorder
Neurodevelopmental disorder
Craniosynostosis syndrome
Global developmental delay
Syndromic intellectual disability
Key Variants
RS1017972143
Conflicting classifications of pathogenicity
Health Risk
RS1057518385
Conflicting classifications of pathogenicity
Health Risk
RS1057523324
Conflicting classifications of pathogenicity
Health Risk
RS1064794000
Conflicting classifications of pathogenicity
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Health Risk
RS1166512057
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1170676998
Conflicting classifications of pathogenicity
Health Risk
RS1174145893
Conflicting classifications of pathogenicity
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Health Risk
RS1181854686
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1198819132
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1219648533
Conflicting classifications of pathogenicity
Inborn genetic diseases, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Inborn genetic diseases
Health Risk
RS1225734988
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1237194366
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (250)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS780955932 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS786200956 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS886042000 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Intellectual disability, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS900174205 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS904555328 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS925928897 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS951927737 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS971794216 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Inborn genetic diseases |
| RS978156504 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS998720218 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS1064795648 | Health Risk | Likely pathogenic | — |
| RS1131691516 | Health Risk | Likely pathogenic | — |
| RS1131691878 | Health Risk | Likely pathogenic | — |
| RS1211232252 | Health Risk | Likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS1554679415 | Health Risk | Likely pathogenic | — |
| RS1554679654 | Health Risk | Likely pathogenic | — |
| RS1554679726 | Health Risk | Likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS1554680188 | Health Risk | Likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS1554680840 | Health Risk | Likely pathogenic | — |
| RS1554681385 | Health Risk | Likely pathogenic | — |
| RS1554702654 | Health Risk | Likely pathogenic | — |
| RS1564013046 | Health Risk | Likely pathogenic | — |
| RS1587705905 | Health Risk | Likely pathogenic | — |
| RS1587709269 | Health Risk | Likely pathogenic | — |
| RS1821677152 | Health Risk | Likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS1821677301 | Health Risk | Likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS1821721248 | Health Risk | Likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS1821915703 | Health Risk | Likely pathogenic | Inborn genetic diseases, Glioma susceptibility 1, Inborn genetic diseases |
| RS1822131416 | Health Risk | Likely pathogenic | — |
| RS1822869930 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2150854704 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2150855326 | Health Risk | Likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2150855722 | Health Risk | Likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2150856458 | Health Risk | Likely pathogenic | — |
| RS2150856658 | Health Risk | Likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2150861625 | Health Risk | Likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2150867576 | Health Risk | Likely pathogenic | — |
| RS2486752253 | Health Risk | Likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486752381 | Health Risk | Likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486754041 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2486754056 | Health Risk | Likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486755602 | Health Risk | Likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486757066 | Health Risk | Likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486757155 | Health Risk | Likely pathogenic | — |
| RS2486757650 | Health Risk | Likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486764054 | Health Risk | Likely pathogenic | — |
| RS2486784145 | Health Risk | Likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486807516 | Health Risk | Likely pathogenic | KAT6A-related disorder, KAT6A-related disorder |
| RS2486812921 | Health Risk | Likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486822374 | Health Risk | Likely pathogenic | KAT6A-related disorder, KAT6A-related disorder |