PHF6 Chromosome X

PHD finger protein 6
52 variants 52 Health Risk

Upload your DNA to see your personal genotypes for variants in PHF6.

What This Gene Does
This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by cognitive disability, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]
Gene Info
Gene Group
PHD finger proteins
Locus Type
gene with protein product
Location
Xq26.2
Ensembl
ENSG00000156531
Associated Conditions (12)
Inborn genetic diseases
PHF6-related disorder
Borjeson-Forssman-Lehmann syndrome
Gastric cancer
Nonpapillary renal cell carcinoma
Thyroid cancer
nonmedullary
1
Intellectual disability
Hereditary spastic paraplegia 4
See cases
Hirsutism
Key Variants
RS1054974225
Conflicting classifications of pathogenicity
Inborn genetic diseases, PHF6-related disorder, Borjeson-Forssman-Lehmann syndrome
Health Risk
RS112199174
Conflicting classifications of pathogenicity
Borjeson-Forssman-Lehmann syndrome, Inborn genetic diseases, PHF6-related disorder
Health Risk
RS188961105
Conflicting classifications of pathogenicity
Borjeson-Forssman-Lehmann syndrome, Inborn genetic diseases, PHF6-related disorder
Health Risk
RS200423380
Conflicting classifications of pathogenicity
Borjeson-Forssman-Lehmann syndrome, PHF6-related disorder, Borjeson-Forssman-Lehmann syndrome
Health Risk
RS2520676263
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS774353684
Conflicting classifications of pathogenicity
Borjeson-Forssman-Lehmann syndrome, Inborn genetic diseases, PHF6-related disorder
Health Risk
RS794727879
Conflicting classifications of pathogenicity
Borjeson-Forssman-Lehmann syndrome, Thyroid cancer, nonmedullary
Health Risk
RS1064795103
Likely pathogenic
Health Risk
RS1569334260
Likely pathogenic
Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
Health Risk
RS1569343210
Likely pathogenic
Health Risk
RS2077467347
Likely pathogenic
Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
Health Risk
RS2077475668
Likely pathogenic
Health Risk
All Variants (52)
RSID Category Clinical Significance Conditions
RS1054974225 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PHF6-related disorder, Borjeson-Forssman-Lehmann syndrome
RS112199174 Health Risk Conflicting classifications of pathogenicity Borjeson-Forssman-Lehmann syndrome, Inborn genetic diseases, PHF6-related disorder
RS188961105 Health Risk Conflicting classifications of pathogenicity Borjeson-Forssman-Lehmann syndrome, Inborn genetic diseases, PHF6-related disorder
RS200423380 Health Risk Conflicting classifications of pathogenicity Borjeson-Forssman-Lehmann syndrome, PHF6-related disorder, Borjeson-Forssman-Lehmann syndrome
RS2520676263 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774353684 Health Risk Conflicting classifications of pathogenicity Borjeson-Forssman-Lehmann syndrome, Inborn genetic diseases, PHF6-related disorder
RS794727879 Health Risk Conflicting classifications of pathogenicity Borjeson-Forssman-Lehmann syndrome, Thyroid cancer, nonmedullary
RS1064795103 Health Risk Likely pathogenic —
RS1569334260 Health Risk Likely pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS1569343210 Health Risk Likely pathogenic —
RS2077467347 Health Risk Likely pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS2077475668 Health Risk Likely pathogenic —
RS2077504269 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2124252847 Health Risk Likely pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS2124252852 Health Risk Likely pathogenic PHF6-related disorder, PHF6-related disorder
RS2520470293 Health Risk Likely pathogenic Borjeson-Forssman-Lehmann syndrome, Nonpapillary renal cell carcinoma, Borjeson-Forssman-Lehmann syndrome
RS2520470317 Health Risk Likely pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS2520543281 Health Risk Likely pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS2520543421 Health Risk Likely pathogenic —
RS2520644535 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2520644840 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS758474623 Health Risk Likely pathogenic Borjeson-Forssman-Lehmann syndrome, Nonpapillary renal cell carcinoma, Borjeson-Forssman-Lehmann syndrome
RS104894917 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS104894918 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS104894919 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS1114167289 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS132630297 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Intellectual disability, Borjeson-Forssman-Lehmann syndrome
RS132630298 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS132630299 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS132630300 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Hereditary spastic paraplegia 4, Borjeson-Forssman-Lehmann syndrome
RS132630301 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS1556013203 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS1556018932 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Inborn genetic diseases, Borjeson-Forssman-Lehmann syndrome
RS1556019107 Health Risk Pathogenic Inborn genetic diseases, See cases, Borjeson-Forssman-Lehmann syndrome
RS1556020616 Health Risk Pathogenic —
RS1602717803 Health Risk Pathogenic —
RS2077460481 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS2077467203 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Nonpapillary renal cell carcinoma, Borjeson-Forssman-Lehmann syndrome
RS2077467552 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS2124198253 Health Risk Pathogenic —
RS2520540555 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2520541219 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS2520543380 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS2520543764 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Nonpapillary renal cell carcinoma, Borjeson-Forssman-Lehmann syndrome
RS2520644434 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS398124428 Health Risk Pathogenic —
RS587777489 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS758791658 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Intellectual disability, Hirsutism
RS770811341 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS771399346 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
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