PHF6 PHD finger protein 6
Gene ID: 84295, updated on 10-Mar-2024Gene type: protein coding
Also known as: BFLS; BORJ; CENP-31
- See all available tests in GTR for this gene
- Go to complete Gene record for PHF6
- Go to Variation Viewer for PHF6 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Borjeson-Forssman-Lehmann syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-02-24) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2021-02-24) ClinGen Genome Curation Page |
Genomic context
- Location:
- Xq26.2
- Sequence:
- Chromosome: X; NC_000023.11 (134373312..134428790)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PHF6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PHF6 database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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