EHMT1 Chromosome 9
Euchromatic histone lysine methyltransferase 1
Upload your DNA to see your personal genotypes for variants in EHMT1.
What This Gene Does
The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
"Ankyrin repeat domain containing|Histone lysine methyltransferases|SET domain containing"
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000181090
Associated Conditions (16)
Kleefstra syndrome 1
Inborn genetic diseases
EHMT1-related disorder
See cases
Kleefstra syndrome
Intellectual disability
Neurodevelopmental disorder
Familial cancer of breast
Epilepsy
Difficulty walking
Abnormal facial shape
Polymicrogyria
Global developmental delay
Marfanoid habitus and intellectual disability
Autism spectrum disorder
6 conditions
Key Variants
RS1003872402
Conflicting classifications of pathogenicity
Kleefstra syndrome 1, Inborn genetic diseases, Kleefstra syndrome 1
Health Risk
RS1004363452
Conflicting classifications of pathogenicity
Kleefstra syndrome 1, Inborn genetic diseases, Kleefstra syndrome 1
Health Risk
RS1010619841
Conflicting classifications of pathogenicity
Kleefstra syndrome 1, Inborn genetic diseases, Kleefstra syndrome 1
Health Risk
RS1016996167
Conflicting classifications of pathogenicity
Kleefstra syndrome 1, EHMT1-related disorder, Kleefstra syndrome 1
Health Risk
RS1039353637
Conflicting classifications of pathogenicity
Kleefstra syndrome 1, Kleefstra syndrome 1
Health Risk
RS1050977100
Conflicting classifications of pathogenicity
Kleefstra syndrome 1, Kleefstra syndrome 1
Health Risk
RS1064796750
Conflicting classifications of pathogenicity
Kleefstra syndrome 1, Inborn genetic diseases, Kleefstra syndrome 1
Health Risk
RS1164812479
Conflicting classifications of pathogenicity
Kleefstra syndrome 1, Kleefstra syndrome 1
Health Risk
RS1193875824
Conflicting classifications of pathogenicity
Kleefstra syndrome 1, Inborn genetic diseases, Kleefstra syndrome 1
Health Risk
RS1229220724
Conflicting classifications of pathogenicity
Kleefstra syndrome 1, Inborn genetic diseases, Kleefstra syndrome 1
Health Risk
RS1265023925
Conflicting classifications of pathogenicity
Inborn genetic diseases, Kleefstra syndrome 1, Inborn genetic diseases
Health Risk
RS1270766408
Conflicting classifications of pathogenicity
Kleefstra syndrome 1, Kleefstra syndrome 1
Health Risk
All Variants (355)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554867189 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1554871138 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1554871182 | Health Risk | Pathogenic | — |
| RS1554879411 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1554879633 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554880275 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1554888910 | Health Risk | Pathogenic | — |
| RS1554895172 | Health Risk | Pathogenic | — |
| RS1554896104 | Health Risk | Pathogenic | — |
| RS1554896575 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1554896943 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1554897110 | Health Risk | Pathogenic | — |
| RS1554897852 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554908411 | Health Risk | Pathogenic | — |
| RS1564704133 | Health Risk | Pathogenic | — |
| RS1564704457 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1564744631 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1588533423 | Health Risk | Pathogenic | — |
| RS1588533561 | Health Risk | Pathogenic | — |
| RS1588642071 | Health Risk | Pathogenic | — |
| RS1588770875 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1588784791 | Health Risk | Pathogenic | Marfanoid habitus and intellectual disability, Kleefstra syndrome 1, Marfanoid habitus and intellectual disability |
| RS1588854011 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1588875719 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1945375812 | Health Risk | Pathogenic | Intellectual disability, Kleefstra syndrome 1, Intellectual disability |
| RS1945392174 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1949924324 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS1949929359 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1950997931 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1951085667 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1951232337 | Health Risk | Pathogenic | — |
| RS1952477688 | Health Risk | Pathogenic | — |
| RS1953188177 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1953425077 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS1954627505 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1954886330 | Health Risk | Pathogenic | — |
| RS1954889657 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1955015534 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS1955068468 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1955070984 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS1955071278 | Health Risk | Pathogenic | — |
| RS2132792568 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS2132809199 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS2133152290 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS2135501951 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS2135511963 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS2135513350 | Health Risk | Pathogenic | — |
| RS2135784846 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS2136218711 | Health Risk | Pathogenic | Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS2136273769 | Health Risk | Pathogenic | — |