PRDM16 Chromosome 1
PR/SET domain 16
Upload your DNA to see your personal genotypes for variants in PRDM16.
What This Gene Does
The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers C2H2-type|PR/SET domain family|MicroRNA protein coding host genes|Putative lysine methyltransferases"
Locus Type
gene with protein product
Location
1p36.32
Ensembl
ENSG00000142611
Associated Conditions (11)
Left ventricular noncompaction 8
PRDM16-related disorder
Inborn genetic diseases
Primary familial hypertrophic cardiomyopathy
Wolff-Parkinson-White pattern
Ovarian serous cystadenocarcinoma
PRDM16-related congenital heart disease
Cardiomyopathy
dilated
1LL
Left ventricular noncompaction cardiomyopathy
Key Variants
RS114204766
Conflicting classifications of pathogenicity
Left ventricular noncompaction 8, PRDM16-related disorder, Inborn genetic diseases
Health Risk
RS1210169174
Conflicting classifications of pathogenicity
Left ventricular noncompaction 8, Inborn genetic diseases, Left ventricular noncompaction 8
Health Risk
RS1270496059
Conflicting classifications of pathogenicity
Left ventricular noncompaction 8, Left ventricular noncompaction 8
Health Risk
RS1294136105
Conflicting classifications of pathogenicity
Left ventricular noncompaction 8, Left ventricular noncompaction 8
Health Risk
RS1358863856
Conflicting classifications of pathogenicity
Left ventricular noncompaction 8, Left ventricular noncompaction 8
Health Risk
RS1366555985
Conflicting classifications of pathogenicity
Left ventricular noncompaction 8, Inborn genetic diseases, Left ventricular noncompaction 8
Health Risk
RS1373869540
Conflicting classifications of pathogenicity
Left ventricular noncompaction 8, Left ventricular noncompaction 8
Health Risk
RS145632008
Conflicting classifications of pathogenicity
Left ventricular noncompaction 8, PRDM16-related disorder, Left ventricular noncompaction 8
Health Risk
RS149333409
Conflicting classifications of pathogenicity
Left ventricular noncompaction 8, PRDM16-related disorder, Inborn genetic diseases
Health Risk
RS1553174650
Conflicting classifications of pathogenicity
Left ventricular noncompaction 8, Inborn genetic diseases, Left ventricular noncompaction 8
Health Risk
RS1569798933
Conflicting classifications of pathogenicity
Left ventricular noncompaction 8, Left ventricular noncompaction 8
Health Risk
RS184929979
Conflicting classifications of pathogenicity
Left ventricular noncompaction 8, Inborn genetic diseases, Left ventricular noncompaction 8
Health Risk
All Variants (70)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114204766 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, PRDM16-related disorder, Inborn genetic diseases |
| RS1210169174 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Inborn genetic diseases, Left ventricular noncompaction 8 |
| RS1270496059 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS1294136105 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS1358863856 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS1366555985 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Inborn genetic diseases, Left ventricular noncompaction 8 |
| RS1373869540 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS145632008 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, PRDM16-related disorder, Left ventricular noncompaction 8 |
| RS149333409 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, PRDM16-related disorder, Inborn genetic diseases |
| RS1553174650 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Inborn genetic diseases, Left ventricular noncompaction 8 |
| RS1569798933 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS184929979 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Inborn genetic diseases, Left ventricular noncompaction 8 |
| RS188908415 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, PRDM16-related disorder, Inborn genetic diseases |
| RS191798831 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, PRDM16-related disorder, Left ventricular noncompaction 8 |
| RS199895459 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS199972068 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, PRDM16-related disorder, Inborn genetic diseases |
| RS199984813 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS199998420 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Primary familial hypertrophic cardiomyopathy, Left ventricular noncompaction 8 |
| RS200109766 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS200562747 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS200946004 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Inborn genetic diseases, PRDM16-related disorder |
| RS200947814 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS201304831 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Inborn genetic diseases, Left ventricular noncompaction 8 |
| RS201517837 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS201517929 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Inborn genetic diseases, Left ventricular noncompaction 8 |
| RS201807364 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS201814961 | Health Risk | Conflicting classifications of pathogenicity | Wolff-Parkinson-White pattern, Left ventricular noncompaction 8, Wolff-Parkinson-White pattern |
| RS2523952171 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS367580261 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS368140002 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Inborn genetic diseases, Left ventricular noncompaction 8 |
| RS368409902 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS370046582 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS371011963 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Inborn genetic diseases, Left ventricular noncompaction 8 |
| RS371021789 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Inborn genetic diseases, Left ventricular noncompaction 8 |
| RS371460126 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS371920642 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Inborn genetic diseases, Left ventricular noncompaction 8 |
| RS373011563 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Inborn genetic diseases, Left ventricular noncompaction 8 |
| RS374664141 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Inborn genetic diseases, Left ventricular noncompaction 8 |
| RS374937969 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS375308440 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, PRDM16-related disorder, Left ventricular noncompaction 8 |
| RS375314464 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS375543158 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, PRDM16-related disorder, Ovarian serous cystadenocarcinoma |
| RS375994227 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS376567517 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, PRDM16-related disorder, Left ventricular noncompaction 8 |
| RS377029492 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS527844629 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS541077599 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS575376153 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS576922307 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |
| RS750026615 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 8, Left ventricular noncompaction 8 |