Borjeson-Forssman-Lehmann syndrome: genes and variants
Borjeson-Forssman-Lehmann syndrome is linked to 1 analyzed protein (PHF6). 12 DNA variants are known to cause it; 35 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Borjeson-Forssman-Lehmann syndrome
PHF6: PHD finger protein 6
It participates in chromatin regulation, transcription, and ribosome biogenesis during development and hematopoiesis. Germline loss-of-function variants cause Borjeson-Forssman-Lehmann syndrome, while somatic mutations occur recurrently in T-cell leukemia and myeloid malignancies.
12 disease-causing and 35 uncertain variants in PHF6 are linked to Borjeson-Forssman-Lehmann syndrome.
Where Borjeson-Forssman-Lehmann syndrome variants cluster
- PHF6 C2HC pre-PHD-type 2 (positions 209–249): 3 of 12 disease-causing changes, 2.2× more than its size predicts.
Known disease-causing variants in Borjeson-Forssman-Lehmann syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PHF6 C45Y | 45 | C2HC pre-PHD-type 1 | Disease-causing (★★) |
| PHF6 M1T | 1 | Disease-causing (★★) | |
| PHF6 E139D | 139 | Disease-causing (★) | |
| PHF6 V268L | 268 | Extended PHD2 domain (ePHD2) | Disease-causing (★) |
| PHF6 A140T | 140 | Disease-causing (★) | |
| PHF6 H229R | 229 | C2HC pre-PHD-type 2 | Disease-causing |
| PHF6 G248V | 248 | C2HC pre-PHD-type 2 | Disease-causing |
| PHF6 C305F | 305 | PHD-type 2 | Disease-causing |
| PHF6 C99F | 99 | PHD-type 1 | Disease-causing |
| PHF6 K234E | 234 | C2HC pre-PHD-type 2 | Disease-causing |
| PHF6 S49L | 49 | C2HC pre-PHD-type 1 | Disease-causing |
| PHF6 C297F | 297 | PHD-type 2 | Disease-causing |
Diseases related to Borjeson-Forssman-Lehmann syndrome
- Hereditary spastic paraplegia, also linked to PHF6
Frequently asked questions
Which genes are linked to Borjeson-Forssman-Lehmann syndrome?
In CATVariant, Borjeson-Forssman-Lehmann syndrome is linked to 1 analyzed protein: PHF6 (PHD finger protein 6).
How many genetic variants are linked to Borjeson-Forssman-Lehmann syndrome?
63 variants: 12 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 35 are of uncertain significance or have conflicting reports.
Which uncertain variants in Borjeson-Forssman-Lehmann syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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