KMT2D Chromosome 12
Lysine methyltransferase 2D
Upload your DNA to see your personal genotypes for variants in KMT2D.
What This Gene Does
The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]
Gene Info
Gene Group
"PHD finger proteins|Histone lysine methyltransferases|SET domain containing"
Locus Type
gene with protein product
Location
12q13.12
Ensembl
ENSG00000167548
Associated Conditions (42)
Kabuki syndrome
Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
KMT2D-related disorder
Inborn genetic diseases
Intellectual disability
VISS syndrome
Neurodevelopmental disorder
6 conditions
Uterine corpus endometrial carcinoma
Acute myeloid leukemia
Cervical cancer
Primary central nervous system lymphoma
Gastric cancer
Glioma susceptibility 1
Left ventricular noncompaction
Malignant tumor of urinary bladder
Autism spectrum disorder due to AUTS2 deficiency
Lymphoma
Rubinstein Taybi like syndrome
+22 more conditions
Key Variants
RS1002386392
Conflicting classifications of pathogenicity
Kabuki syndrome, Kabuki syndrome
Health Risk
RS1014845953
Conflicting classifications of pathogenicity
Kabuki syndrome, Kabuki syndrome
Health Risk
RS1019876289
Conflicting classifications of pathogenicity
Kabuki syndrome, Kabuki syndrome 1, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Health Risk
RS1020065475
Conflicting classifications of pathogenicity
Kabuki syndrome, Kabuki syndrome 1, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Health Risk
RS1020472849
Conflicting classifications of pathogenicity
Kabuki syndrome, Kabuki syndrome
Health Risk
RS1028524252
Conflicting classifications of pathogenicity
Kabuki syndrome, KMT2D-related disorder, Kabuki syndrome
Health Risk
RS1033739107
Conflicting classifications of pathogenicity
Kabuki syndrome, Kabuki syndrome 1, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Health Risk
RS1038898344
Conflicting classifications of pathogenicity
Kabuki syndrome, Kabuki syndrome 1, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Health Risk
RS1043416843
Conflicting classifications of pathogenicity
Kabuki syndrome, Inborn genetic diseases, Kabuki syndrome
Health Risk
RS1043654062
Conflicting classifications of pathogenicity
Kabuki syndrome 1, Kabuki syndrome, Kabuki syndrome 1
Health Risk
RS1044708169
Conflicting classifications of pathogenicity
Kabuki syndrome, Inborn genetic diseases, Kabuki syndrome
Health Risk
RS1048666076
Conflicting classifications of pathogenicity
Inborn genetic diseases, Kabuki syndrome, Inborn genetic diseases
Health Risk
All Variants (1503)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2120430055 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome |
| RS2120430888 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome |
| RS2120435220 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome |
| RS2120436897 | Health Risk | Pathogenic | — |
| RS2120437244 | Health Risk | Pathogenic | — |
| RS2120437427 | Health Risk | Pathogenic | Kabuki syndrome 1, Inborn genetic diseases, Kabuki syndrome 1 |
| RS2120441127 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS2120442038 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome |
| RS2120442365 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS2120448780 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome 1, Kabuki syndrome |
| RS2120450900 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome 1, Kabuki syndrome |
| RS2120452118 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome |
| RS2120452825 | Health Risk | Pathogenic | Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome |
| RS2120453226 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome |
| RS2120453489 | Health Risk | Pathogenic | Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome |
| RS2120454333 | Health Risk | Pathogenic | Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome |
| RS2120454881 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS2120455070 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS2120461457 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS2120474870 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS2120476270 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS2120477465 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS2120479652 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS2120480689 | Health Risk | Pathogenic | KMT2D-related disorder, KMT2D-related disorder |
| RS2120481036 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome |
| RS2120482282 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome, Kabuki syndrome 1 |
| RS2120489486 | Health Risk | Pathogenic | KMT2D-related disorder, KMT2D-related disorder |
| RS2120494972 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS2120504102 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome |
| RS2120505590 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS2120522545 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS2120525456 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome |
| RS2120527860 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS2120529379 | Health Risk | Pathogenic | — |
| RS2120533487 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome |
| RS2120534874 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome |
| RS2120542630 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome |
| RS2120542644 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS2120547138 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS2120548391 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome |
| RS2120551363 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS2120551414 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome |
| RS2120552710 | Health Risk | Pathogenic | — |
| RS2120552933 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome |
| RS2120558174 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS2120559513 | Health Risk | Pathogenic | — |
| RS2120560322 | Health Risk | Pathogenic | — |
| RS2120563266 | Health Risk | Pathogenic | Kabuki syndrome 1, Kabuki syndrome 1 |
| RS2120567609 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome |
| RS2120575149 | Health Risk | Pathogenic | Kabuki syndrome, Kabuki syndrome |