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 |
|---|---|---|---|
| RS1018780128 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Inborn genetic diseases, Kabuki syndrome 2 |
| RS1032545459 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1340911940 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Inborn genetic diseases, Kabuki syndrome 2 |
| RS1374292312 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS140562248 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Nonpapillary renal cell carcinoma, Kabuki syndrome 2 |
| RS199761905 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS200638114 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, KDM6A-related disorder, Inborn genetic diseases |
| RS200940558 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2045816079 | Health Risk | Conflicting classifications of pathogenicity | Kabuki Syndrome - KDM6A, Kabuki Syndrome - KDM6A |
| RS2148039110 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2148117604 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Kabuki syndrome 2, Kabuki syndrome 2 |
| RS368984079 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Inborn genetic diseases, Kabuki syndrome 2 |
| RS369284316 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Inborn genetic diseases, Kabuki syndrome 2 |
| RS370765411 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS374328447 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 1, Kabuki syndrome 2, Kabuki syndrome 1 |
| RS375011484 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Inborn genetic diseases, Kabuki syndrome 2 |
| RS375096245 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS727503976 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS747505929 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, KDM6A-related disorder, Kabuki syndrome 2 |
| RS751146386 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS756545808 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS760601613 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS763587293 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Kabuki syndrome 2, Inborn genetic diseases |
| RS767711383 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS768863219 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, KDM6A-related disorder, Primary dilated cardiomyopathy |
| RS773022554 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, See cases, Kabuki syndrome 2 |
| RS773682292 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Nonpapillary renal cell carcinoma, Kabuki syndrome 2 |
| RS774436229 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS780484731 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS887019370 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS923984398 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Inborn genetic diseases, Kabuki syndrome 2 |
| RS965420348 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS972968488 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS973676174 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 2, Inborn genetic diseases, Kabuki syndrome 2 |
| RS1060499665 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1064795033 | Health Risk | Likely pathogenic | — |
| RS1131691535 | Health Risk | Likely pathogenic | Cervical cancer, Cervical cancer |
| RS1195711941 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1555957146 | Health Risk | Likely pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS1555957162 | Health Risk | Likely pathogenic | — |
| RS1556350571 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1556357274 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1569533871 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1569537333 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Nonpapillary renal cell carcinoma, Kabuki syndrome 2 |
| RS1569542167 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1602799769 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1602928572 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1602985802 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1603068073 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2044199885 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |