KMT2E Chromosome 7
Lysine methyltransferase 2E (inactive)
Upload your DNA to see your personal genotypes for variants in KMT2E.
What This Gene Does
This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"PHD finger proteins|SET domain containing|Putative lysine methyltransferases"
Locus Type
gene with protein product
Location
7q22.3
Ensembl
ENSG00000005483
Associated Conditions (12)
Inborn genetic diseases
See cases
Ovarian serous cystadenocarcinoma
O'Donnell-Luria-Rodan syndrome
KMT2E-related disorder
Intellectual disability
autosomal dominant 40
Complex neurodevelopmental disorder
Neurodevelopmental disorder
Neurodevelopmental delay
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Global developmental delay
Key Variants
RS142333661
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144839449
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1473615786
Conflicting classifications of pathogenicity
Health Risk
RS1487138189
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1554394210
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS1584746915
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS1584761229
Conflicting classifications of pathogenicity
See cases, Ovarian serous cystadenocarcinoma, See cases
Health Risk
RS1584805745
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS1584807875
Conflicting classifications of pathogenicity
See cases, O'Donnell-Luria-Rodan syndrome, See cases
Health Risk
RS1797770708
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1799182705
Conflicting classifications of pathogenicity
O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
Health Risk
RS1799201805
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (139)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2129569824 | Health Risk | Pathogenic | — |
| RS2129569834 | Health Risk | Pathogenic | O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome |
| RS2129569889 | Health Risk | Pathogenic | O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome |
| RS2129569913 | Health Risk | Pathogenic | — |
| RS2129569915 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2536385595 | Health Risk | Pathogenic | — |
| RS2536420410 | Health Risk | Pathogenic | O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome |
| RS2536427883 | Health Risk | Pathogenic | — |
| RS2536428687 | Health Risk | Pathogenic | O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome |
| RS2536462095 | Health Risk | Pathogenic | O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome |
| RS2536465125 | Health Risk | Pathogenic | — |
| RS2536465540 | Health Risk | Pathogenic | O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome |
| RS2536490639 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2536490764 | Health Risk | Pathogenic | See cases, See cases |
| RS2536493815 | Health Risk | Pathogenic | O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome |
| RS2536502995 | Health Risk | Pathogenic | Inborn genetic diseases, O'Donnell-Luria-Rodan syndrome, Inborn genetic diseases |
| RS2536504223 | Health Risk | Pathogenic | O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome |
| RS2536506052 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2536506247 | Health Risk | Pathogenic | — |
| RS2536508193 | Health Risk | Pathogenic | — |
| RS2536509325 | Health Risk | Pathogenic | — |
| RS2536510463 | Health Risk | Pathogenic | — |
| RS2536510853 | Health Risk | Pathogenic | — |
| RS2536513946 | Health Risk | Pathogenic | — |
| RS2536518341 | Health Risk | Pathogenic | O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome |
| RS2536526427 | Health Risk | Pathogenic | — |
| RS541493300 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS759897255 | Health Risk | Pathogenic | — |
| RS772510917 | Health Risk | Pathogenic | O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome |
| RS1243172283 | Health Risk | Pathogenic/Likely pathogenic | O'Donnell-Luria-Rodan syndrome, Inborn genetic diseases, KMT2E-related disorder |
| RS1479029169 | Health Risk | Pathogenic/Likely pathogenic | O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome |
| RS1562927768 | Health Risk | Pathogenic/Likely pathogenic | O'Donnell-Luria-Rodan syndrome, See cases, Inborn genetic diseases |
| RS1584802744 | Health Risk | Pathogenic/Likely pathogenic | O'Donnell-Luria-Rodan syndrome, See cases, O'Donnell-Luria-Rodan syndrome |
| RS1584803745 | Health Risk | Pathogenic/Likely pathogenic | See cases, Inborn genetic diseases, See cases |
| RS1584808269 | Health Risk | Pathogenic/Likely pathogenic | See cases, O'Donnell-Luria-Rodan syndrome, See cases |
| RS1799378709 | Health Risk | Pathogenic/Likely pathogenic | O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome |
| RS2536432550 | Health Risk | Pathogenic/Likely pathogenic | O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome |
| RS2536525829 | Health Risk | Pathogenic/Likely pathogenic | O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome |
| RS777413129 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, O'Donnell-Luria-Rodan syndrome, Global developmental delay |