Basal cell nevus syndrome 1: genes and variants

Genes linked to Basal cell nevus syndrome 1

• PTCH1: Protein patched homolog 1

  It suppresses Smoothened in the absence of Hedgehog ligands and thereby keeps Hedgehog developmental signaling inactive until an appropriate signal is received. Germline loss-of-function variants cause Gorlin syndrome, while somatic pathway activation drives basal-cell carcinoma and other tumors.

  2 disease-causing and 38 uncertain variants in PTCH1 are linked to Basal cell nevus syndrome 1.

• SUFU: Suppressor of fused homolog

  It restrains GLI transcription factors and thereby keeps Hedgehog signaling off when pathway activation is absent. Germline loss-of-function variants predispose particularly to infant desmoplastic medulloblastoma and can also cause developmental Hedgehog-pathway phenotypes.

  0 disease-causing and 11 uncertain variants in SUFU are linked to Basal cell nevus syndrome 1.

Known disease-causing variants in Basal cell nevus syndrome 1

Same protein, different disease

• Gorlin syndrome is also caused by PTCH1 variants; they fall mostly in different places as the Basal cell nevus syndrome 1 variants (27 disease-causing).

Diseases related to Basal cell nevus syndrome 1

• Gorlin syndrome, also linked to PTCH1 and SUFU
• Medulloblastoma, also linked to PTCH1 and SUFU
• Ovarian cancer, also linked to PTCH1
• Familial meningioma, also linked to SUFU
• Joubert syndrome, also linked to SUFU
• Basal cell carcinoma, also linked to PTCH1
• Holoprosencephaly, also linked to PTCH1

Frequently asked questions

Which genes are linked to Basal cell nevus syndrome 1?

In CATVariant, Basal cell nevus syndrome 1 is linked to 2 analyzed proteins: PTCH1 (Protein patched homolog 1) and SUFU (Suppressor of fused homolog).

How many genetic variants are linked to Basal cell nevus syndrome 1?

52 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 49 are of uncertain significance or have conflicting reports.

Which uncertain variants in Basal cell nevus syndrome 1 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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