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 |
|---|---|---|---|
| RS398122829 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS398122929 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS398122969 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS755440519 | Health Risk | Pathogenic | Neurodevelopmental disorder, Kabuki syndrome 2, Neurodevelopmental disorder |
| RS786205676 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS797045642 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS886039398 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS886041452 | Health Risk | Pathogenic | — |
| RS886041899 | Health Risk | Pathogenic | — |
| RS886041946 | Health Risk | Pathogenic | Medulloblastoma non-WNT/non-SHH group 4, Familial prostate cancer, Medulloblastoma non-WNT/non-SHH group 4 |
| RS886043476 | Health Risk | Pathogenic | — |
| RS912069418 | Health Risk | Pathogenic | Kabuki syndrome 2, Malignant tumor of urinary bladder, Kabuki syndrome 2 |
| RS1318649487 | Health Risk | Pathogenic/Likely pathogenic | Kabuki syndrome 2, Anemia, Kabuki syndrome 2 |
| RS2046713136 | Health Risk | Pathogenic/Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2148193855 | Health Risk | Pathogenic/Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS863224886 | Health Risk | Pathogenic/Likely pathogenic | Kabuki syndrome 2, Medulloblastoma WNT activated, Kabuki syndrome 2 |