PHF6

PHD finger protein 6

2 disorders 1 causative 1 somatic driver Xq26.2 gene with protein product

HGNC:18145 Monarch NCBI Gene 84295 ENSG00000156531 UniProt Q8IWS0 OMIM 300414

Previous symbols: BFLS, BORJ. Aliases: KIAA1823, MGC14797, CENP-31.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Borjeson-Forssman-Lehmann syndrome	causative	mechanism: PHF6-dependent transcriptional dysregulation diagnosis: PHF6 molecular genetic testing
Mixed Phenotype Acute Leukemia	somatic driver somatic	mechanism: Immature T-Lineage Program with Retained Myeloid Potential scoped to subtype: MPAL T/myeloid NOS

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Borjeson-Forssman-Lehmann syndrome MONDO:0010537	XL	Definitive 2018-02-21	Borjeson-Forssman-Lehmann syndrome causative

Mechanism modules · computed from kb/

epigenetic_machinery_neurodevelopmental_dysregulation via Borjeson-Forssman-Lehmann syndrome

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.