PRDM5 Chromosome 4
PR/SET domain 5
Upload your DNA to see your personal genotypes for variants in PRDM5.
What This Gene Does
The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers C2H2-type|PR/SET domain family|Putative lysine methyltransferases"
Locus Type
gene with protein product
Location
4q27
Ensembl
ENSG00000138738
Associated Conditions (5)
Brittle cornea syndrome 2
PRDM5-related disorder
Cardiovascular phenotype
Ehlers-Danlos syndrome
Connective tissue disorder
Key Variants
RS1064794819
Conflicting classifications of pathogenicity
Brittle cornea syndrome 2, PRDM5-related disorder, Cardiovascular phenotype
Health Risk
RS1306216582
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1343793848
Conflicting classifications of pathogenicity
Health Risk
RS1405110509
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
Health Risk
RS140554156
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS144553125
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS148079992
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
Health Risk
RS150476884
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1744464153
Conflicting classifications of pathogenicity
Brittle cornea syndrome 2, Brittle cornea syndrome 2
Health Risk
RS183142477
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, Cardiovascular phenotype, Brittle cornea syndrome 2
Health Risk
RS185134294
Conflicting classifications of pathogenicity
Brittle cornea syndrome 2, Ehlers-Danlos syndrome, Cardiovascular phenotype
Health Risk
RS187637689
Conflicting classifications of pathogenicity
Brittle cornea syndrome 2, Cardiovascular phenotype, Brittle cornea syndrome 2
Health Risk
All Variants (77)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2478057377 | Health Risk | Likely pathogenic | Brittle cornea syndrome 2, Brittle cornea syndrome 2 |
| RS2478739096 | Health Risk | Likely pathogenic | — |
| RS2479621337 | Health Risk | Likely pathogenic | — |
| RS387907111 | Health Risk | Likely pathogenic | Brittle cornea syndrome 2, Brittle cornea syndrome 2 |
| RS755802156 | Health Risk | Likely pathogenic | Brittle cornea syndrome 2, Brittle cornea syndrome 2 |
| RS771708843 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1267369024 | Health Risk | Pathogenic | Brittle cornea syndrome 2, Brittle cornea syndrome 2 |
| RS1409412200 | Health Risk | Pathogenic | PRDM5-related disorder, PRDM5-related disorder |
| RS1490743354 | Health Risk | Pathogenic | — |
| RS1579259095 | Health Risk | Pathogenic | Brittle cornea syndrome 2, Brittle cornea syndrome 2 |
| RS2149347262 | Health Risk | Pathogenic | — |
| RS2477057679 | Health Risk | Pathogenic | — |
| RS2477154326 | Health Risk | Pathogenic | — |
| RS2477826472 | Health Risk | Pathogenic | — |
| RS2477994517 | Health Risk | Pathogenic | — |
| RS2478750306 | Health Risk | Pathogenic | — |
| RS2479623086 | Health Risk | Pathogenic | — |
| RS369580755 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, Cardiovascular phenotype, PRDM5-related disorder |
| RS387907110 | Health Risk | Pathogenic | Brittle cornea syndrome 2, Brittle cornea syndrome 2 |
| RS755676779 | Health Risk | Pathogenic | Brittle cornea syndrome 2, Brittle cornea syndrome 2 |
| RS765464485 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS766853150 | Health Risk | Pathogenic | Brittle cornea syndrome 2, Ehlers-Danlos syndrome, Brittle cornea syndrome 2 |
| RS1409037310 | Health Risk | Pathogenic/Likely pathogenic | Brittle cornea syndrome 2, Cardiovascular phenotype, Brittle cornea syndrome 2 |
| RS1455476600 | Health Risk | Pathogenic/Likely pathogenic | Brittle cornea syndrome 2, Brittle cornea syndrome 2 |
| RS2477547119 | Health Risk | Pathogenic/Likely pathogenic | Brittle cornea syndrome 2, Brittle cornea syndrome 2 |
| RS2478065345 | Health Risk | Pathogenic/Likely pathogenic | Brittle cornea syndrome 2, Brittle cornea syndrome 2 |
| RS2529843313 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |