PHF8 Chromosome X
PHD finger protein 8
Upload your DNA to see your personal genotypes for variants in PHF8.
What This Gene Does
The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. The protein has an N-terminal PHD finger and a central Jumonji C domain. This gene is thought to function as a transcription activator. Defects in this gene are a cause of syndromic X-linked Siderius type intellectual disability (MRXSSD) and over-expression of this gene is associated with several forms of cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"PHD finger proteins|Lysine demethylases"
Locus Type
gene with protein product
Location
Xp11.22
Ensembl
ENSG00000172943
Associated Conditions (4)
Inborn genetic diseases
Syndromic X-linked intellectual disability Siderius type
PHF8-related disorder
Intellectual disability
Key Variants
RS1157683205
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1437750762
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type
Health Risk
RS781837094
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Siderius type, Inborn genetic diseases, Syndromic X-linked intellectual disability Siderius type
Health Risk
RS782396701
Conflicting classifications of pathogenicity
Health Risk
RS782532619
Conflicting classifications of pathogenicity
Health Risk
RS797044651
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type
Health Risk
RS1603305030
Likely pathogenic
Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type
Health Risk
RS2065126287
Likely pathogenic
Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type
Health Risk
RS2149842089
Likely pathogenic
Health Risk
RS2519312896
Likely pathogenic
Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type
Health Risk
RS2519528965
Likely pathogenic
Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type
Health Risk
RS2519674440
Likely pathogenic
PHF8-related disorder, PHF8-related disorder
Health Risk
All Variants (29)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1157683205 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1437750762 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type |
| RS781837094 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Siderius type, Inborn genetic diseases, Syndromic X-linked intellectual disability Siderius type |
| RS782396701 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782532619 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS797044651 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type |
| RS1603305030 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type |
| RS2065126287 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type |
| RS2149842089 | Health Risk | Likely pathogenic | — |
| RS2519312896 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type |
| RS2519528965 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type |
| RS2519674440 | Health Risk | Likely pathogenic | PHF8-related disorder, PHF8-related disorder |
| RS1057518729 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type |
| RS121918522 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type |
| RS121918523 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type |
| RS121918524 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type |
| RS1557099144 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1557101975 | Health Risk | Pathogenic | — |
| RS1557110385 | Health Risk | Pathogenic | — |
| RS1603298803 | Health Risk | Pathogenic | — |
| RS1603314287 | Health Risk | Pathogenic | — |
| RS1603338257 | Health Risk | Pathogenic | — |
| RS1603339671 | Health Risk | Pathogenic | — |
| RS2065590491 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type |
| RS2519660069 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type |
| RS2519674603 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type |
| RS878853148 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2519516307 | Health Risk | Pathogenic/Likely pathogenic | Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type |
| RS797044665 | Health Risk | Pathogenic/Likely pathogenic | — |