KDM1A Chromosome 1
Lysine demethylase 1A
Upload your DNA to see your personal genotypes for variants in KDM1A.
What This Gene Does
This gene encodes a nuclear protein containing a SWIRM domain, a FAD-binding motif, and an amine oxidase domain. This protein is a component of several histone deacetylase complexes, though it silences genes by functioning as a histone demethylase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
Gene Info
Gene Group
"Lysine demethylases|MicroRNA protein coding host genes|Flavoproteins"
Locus Type
gene with protein product
Location
1p36.12
Ensembl
ENSG00000004487
Associated Conditions (6)
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Inborn genetic diseases
KDM1A-related disorder
Intellectual disability
Neurodevelopmental delay
Squamous cell lung carcinoma
Key Variants
RS1358497272
Conflicting classifications of pathogenicity
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, Inborn genetic diseases, Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Health Risk
RS144822945
Conflicting classifications of pathogenicity
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, KDM1A-related disorder, Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Health Risk
RS1453222016
Conflicting classifications of pathogenicity
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Health Risk
RS200773378
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370506423
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370820052
Conflicting classifications of pathogenicity
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, Inborn genetic diseases, Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Health Risk
RS376265325
Conflicting classifications of pathogenicity
Inborn genetic diseases, KDM1A-related disorder, Inborn genetic diseases
Health Risk
RS61749351
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS748733661
Conflicting classifications of pathogenicity
Health Risk
RS752275854
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS758354898
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS759638292
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1358497272 | Health Risk | Conflicting classifications of pathogenicity | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, Inborn genetic diseases, Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome |
| RS144822945 | Health Risk | Conflicting classifications of pathogenicity | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, KDM1A-related disorder, Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome |
| RS1453222016 | Health Risk | Conflicting classifications of pathogenicity | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome |
| RS200773378 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370506423 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370820052 | Health Risk | Conflicting classifications of pathogenicity | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, Inborn genetic diseases, Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome |
| RS376265325 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, KDM1A-related disorder, Inborn genetic diseases |
| RS61749351 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS748733661 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752275854 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758354898 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS759638292 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765476443 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774064976 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1553129293 | Health Risk | Likely pathogenic | — |
| RS1553130904 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2124508402 | Health Risk | Likely pathogenic | — |
| RS2124523419 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, Squamous cell lung carcinoma |
| RS2124538211 | Health Risk | Likely pathogenic | — |
| RS864309714 | Health Risk | Pathogenic | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome |
| RS864309715 | Health Risk | Pathogenic | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome |
| RS864309716 | Health Risk | Pathogenic | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome |