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 |
|---|---|---|---|
| RS2044409446 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2045232957 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2045273679 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2045279014 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2045472713 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2045619034 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2147170755 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2147667381 | Health Risk | Likely pathogenic | — |
| RS2147955813 | Health Risk | Likely pathogenic | — |
| RS2147997359 | Health Risk | Likely pathogenic | KDM6A-related disorder, KDM6A-related disorder |
| RS2148047495 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2148152270 | Health Risk | Likely pathogenic | — |
| RS2148169289 | Health Risk | Likely pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS2148169594 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2521468886 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2521643351 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2522201595 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2522808002 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2522874590 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2522982178 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2523142753 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2523283034 | Health Risk | Likely pathogenic | — |
| RS746435548 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS761551642 | Health Risk | Likely pathogenic | — |
| RS793888509 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Nonpapillary renal cell carcinoma, Kabuki syndrome 2 |
| RS793888510 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS797045643 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS797045644 | Health Risk | Likely pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1064793351 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1135401809 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2, Nonpapillary renal cell carcinoma |
| RS1315389362 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1358181248 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1450363794 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 1, Kabuki syndrome 2 |
| RS1556115974 | Health Risk | Pathogenic | — |
| RS1556308480 | Health Risk | Pathogenic | Inborn genetic diseases, Malignant tumor of urinary bladder, Inborn genetic diseases |
| RS1556311265 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1556328723 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1556328781 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1556330304 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1556341546 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1556346208 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1556357314 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1556375815 | Health Risk | Pathogenic | — |
| RS1602822117 | Health Risk | Pathogenic | — |
| RS1602868720 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1602928108 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1602965271 | Health Risk | Pathogenic | — |
| RS189751539 | Health Risk | Pathogenic | Kabuki syndrome 2, Medulloblastoma non-WNT/non-SHH group 4, Kabuki syndrome 2 |
| RS2031089646 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2041729565 | Health Risk | Pathogenic | Kabuki syndrome 2, Kabuki syndrome 2 |