KDM6A Chromosome X
Lysine demethylase 6A
Upload your DNA to see your personal genotypes for variants in KDM6A.
What This Gene Does
This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
Gene Info
Gene Group
"Lysine demethylases|Tetratricopeptide repeat domain containing"
Locus Type
gene with protein product
Location
Xp11.3
Ensembl
ENSG00000147050
Associated Conditions (22)
Kabuki syndrome 2
Inborn genetic diseases
Nonpapillary renal cell carcinoma
KDM6A-related disorder
Kabuki Syndrome - KDM6A
Kabuki syndrome 1
Primary dilated cardiomyopathy
Intellectual disability
See cases
Cervical cancer
Thyroid cancer
nonmedullary
1
Neurodevelopmental disorder
Neoplasm
Malignant tumor of urinary bladder
Medulloblastoma non-WNT/non-SHH group 4
Familial cancer of breast
Autism spectrum disorder
Familial prostate cancer
+2 more conditions
Key Variants
RS1018780128
Conflicting classifications of pathogenicity
Kabuki syndrome 2, Inborn genetic diseases, Kabuki syndrome 2
Health Risk
RS1032545459
Conflicting classifications of pathogenicity
Kabuki syndrome 2, Kabuki syndrome 2
Health Risk
RS1340911940
Conflicting classifications of pathogenicity
Kabuki syndrome 2, Inborn genetic diseases, Kabuki syndrome 2
Health Risk
RS1374292312
Conflicting classifications of pathogenicity
Kabuki syndrome 2, Kabuki syndrome 2
Health Risk
RS140562248
Conflicting classifications of pathogenicity
Kabuki syndrome 2, Nonpapillary renal cell carcinoma, Kabuki syndrome 2
Health Risk
RS199761905
Conflicting classifications of pathogenicity
Kabuki syndrome 2, Kabuki syndrome 2
Health Risk
RS200638114
Conflicting classifications of pathogenicity
Kabuki syndrome 2, KDM6A-related disorder, Inborn genetic diseases
Health Risk
RS200940558
Conflicting classifications of pathogenicity
Kabuki syndrome 2, Kabuki syndrome 2
Health Risk
RS2045816079
Conflicting classifications of pathogenicity
Kabuki Syndrome - KDM6A, Kabuki Syndrome - KDM6A
Health Risk
RS2148039110
Conflicting classifications of pathogenicity
Kabuki syndrome 2, Kabuki syndrome 2
Health Risk
RS2148117604
Conflicting classifications of pathogenicity
Kabuki syndrome 2, Kabuki syndrome 2, Kabuki syndrome 2
Health Risk
RS368984079
Conflicting classifications of pathogenicity
Kabuki syndrome 2, Inborn genetic diseases, Kabuki syndrome 2
Health Risk
All Variants (166)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2042138847 | Health Risk | Pathogenic | Kabuki syndrome 2, Thyroid cancer, nonmedullary |
| RS2042747021 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2042875800 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2043958892 | Health Risk | Pathogenic | Kabuki syndrome 2, Nonpapillary renal cell carcinoma, Kabuki syndrome 2 |
| RS2043963299 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2044215489 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2044234392 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS2044282736 | Health Risk | Pathogenic | Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma |
| RS2044403163 | Health Risk | Pathogenic | Inborn genetic diseases, Kabuki syndrome 2, Kabuki syndrome 1 |
| RS2044404250 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2044726547 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2044750709 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2045462398 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2045473471 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2146448773 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2147263638 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2147664601 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2147776373 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2147777529 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Familial cancer of breast, Malignant tumor of urinary bladder |
| RS2147959076 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS2147963446 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2147975941 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2147997903 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS2148050812 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2148058653 | Health Risk | Pathogenic | Kabuki syndrome 2, Thyroid cancer, nonmedullary |
| RS2148058668 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2148118664 | Health Risk | Pathogenic | — |
| RS2148143831 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2148193752 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS2519224295 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2520298620 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2520298732 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2522637013 | Health Risk | Pathogenic | — |
| RS2522637621 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2522671934 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2522766989 | Health Risk | Pathogenic | KDM6A-related disorder, KDM6A-related disorder |
| RS2522770771 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2522782154 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS2522811516 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2522833971 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS2522976055 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2522979442 | Health Risk | Pathogenic | — |
| RS2522983092 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2523162465 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2523168080 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2523246933 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2523282436 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS2523330593 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2523335614 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS397514628 | Health Risk | Pathogenic | Kabuki syndrome 2, Inborn genetic diseases, Kabuki syndrome 2 |