PTCH1

patched 1

5 disorders 4 untyped 1 causative 9q22.32 gene with protein product

HGNC:9585 Monarch NCBI Gene 5727 ENSG00000185920 UniProt Q13635 OMIM 601309

Previous symbols: NBCCS, PTCH. Aliases: BCNS, SLC65B1.

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
Congenital Hydrocephalus	causative de novo	mechanism: Genetic Disruption of Ventricular Zone Neural Stem Cell Fate
Basal Cell Carcinoma	untyped Loss-of-Function Mutations loss of function	mechanism: PTCH1 Loss of Function
Gorlin Syndrome	untyped Causative (Primary) somatic loss of function	mechanism: PTCH1 Germline First-Hit Loss-of-Function; PTCH1 Somatic Second-Hit Loss
Medulloblastoma, SHH-Activated	untyped Somatic/Germline Mutation
PTCH1-related nevoid basal cell carcinoma syndrome	untyped Causative (Primary) loss of function	mechanism: PTCH1 Loss with SMO Disinhibition

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
nevoid basal cell carcinoma syndrome MONDO:0007187	AD	Definitive 2018-06-04	Gorlin Syndrome untyped
holoprosencephaly MONDO:0016296	AD	Limited 2025-07-09	no dismech entry

Mechanism modules · computed from kb/

germline_two_hit_tumor_predisposition via Gorlin Syndrome
hedgehog_pathway_activation via Basal Cell Carcinoma, Gorlin Syndrome, PTCH1-related nevoid basal cell carcinoma syndrome

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