PRDM13 Chromosome 6
PR/SET domain 13
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What This Gene Does
Predicted to enable histone methyltransferase activity. Predicted to be involved in regulation of gene expression. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II and neurogenesis. Predicted to be active in nucleus. Implicated in pontocerebellar hypoplasia. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Zinc fingers C2H2-type|PR/SET domain family|Putative lysine methyltransferases"
Locus Type
gene with protein product
Location
6q16.2
Ensembl
ENSG00000112238
Associated Conditions (6)
Inborn genetic diseases
Cerebellar dysfunction
impaired intellectual development
and hypogonadotropic hypogonadism
Pontocerebellar hypoplasia
IIA 17
Key Variants
RS377013141
Conflicting classifications of pathogenicity
Health Risk
RS377408189
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS575217517
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS766358855
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS767721224
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2114499502
Pathogenic
Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
Health Risk
RS2114499988
Pathogenic
Pontocerebellar hypoplasia, IIA 17, Pontocerebellar hypoplasia
Health Risk
RS2114500026
Pathogenic
Pontocerebellar hypoplasia, IIA 17, Pontocerebellar hypoplasia
Health Risk
RS2114500035
Pathogenic
Pontocerebellar hypoplasia, IIA 17, Pontocerebellar hypoplasia
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS377013141 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377408189 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS575217517 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766358855 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767721224 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2114499502 | Health Risk | Pathogenic | Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism |
| RS2114499988 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, IIA 17, Pontocerebellar hypoplasia |
| RS2114500026 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, IIA 17, Pontocerebellar hypoplasia |
| RS2114500035 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, IIA 17, Pontocerebellar hypoplasia |