PTCH2 Chromosome 1
Patched 2
Upload your DNA to see your personal genotypes for variants in PTCH2.
What This Gene Does
This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Solute carrier family 65
Locus Type
gene with protein product
Location
1p34.1
Ensembl
ENSG00000117425
Associated Conditions (9)
Gorlin syndrome
Basal cell carcinoma
susceptibility to
1
Medulloblastoma
PTCH2-related disorder
Basal cell nevus syndrome 1
Familial cancer of breast
somatic
Key Variants
RS1252822973
Conflicting classifications of pathogenicity
Gorlin syndrome, Gorlin syndrome
Health Risk
RS138588008
Conflicting classifications of pathogenicity
Gorlin syndrome, Basal cell carcinoma, susceptibility to
Health Risk
RS1389288169
Conflicting classifications of pathogenicity
Gorlin syndrome, Gorlin syndrome
Health Risk
RS147567317
Conflicting classifications of pathogenicity
Gorlin syndrome, Gorlin syndrome
Health Risk
RS147669300
Conflicting classifications of pathogenicity
Gorlin syndrome, Basal cell carcinoma, susceptibility to
Health Risk
RS149133805
Conflicting classifications of pathogenicity
Gorlin syndrome, Basal cell carcinoma, susceptibility to
Health Risk
RS1573648653
Conflicting classifications of pathogenicity
Gorlin syndrome, Gorlin syndrome
Health Risk
RS199959462
Conflicting classifications of pathogenicity
Gorlin syndrome, Gorlin syndrome
Health Risk
RS199998309
Conflicting classifications of pathogenicity
Gorlin syndrome, Basal cell carcinoma, susceptibility to
Health Risk
RS200216295
Conflicting classifications of pathogenicity
Gorlin syndrome, Gorlin syndrome
Health Risk
RS200355030
Conflicting classifications of pathogenicity
Gorlin syndrome, Gorlin syndrome
Health Risk
RS200873074
Conflicting classifications of pathogenicity
Gorlin syndrome, Basal cell nevus syndrome 1, Gorlin syndrome
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1252822973 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Gorlin syndrome |
| RS138588008 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Basal cell carcinoma, susceptibility to |
| RS1389288169 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Gorlin syndrome |
| RS147567317 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Gorlin syndrome |
| RS147669300 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Basal cell carcinoma, susceptibility to |
| RS149133805 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Basal cell carcinoma, susceptibility to |
| RS1573648653 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Gorlin syndrome |
| RS199959462 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Gorlin syndrome |
| RS199998309 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Basal cell carcinoma, susceptibility to |
| RS200216295 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Gorlin syndrome |
| RS200355030 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Gorlin syndrome |
| RS200873074 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Basal cell nevus syndrome 1, Gorlin syndrome |
| RS201345708 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Basal cell carcinoma |
| RS2148874807 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Basal cell carcinoma, susceptibility to |
| RS375844056 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Basal cell nevus syndrome 1, Gorlin syndrome |
| RS546170078 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Gorlin syndrome |
| RS560010627 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Gorlin syndrome |
| RS56126236 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Basal cell carcinoma |
| RS561823980 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Gorlin syndrome |
| RS61751010 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Gorlin syndrome |
| RS752886480 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Basal cell carcinoma |
| RS781171287 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Basal cell carcinoma, susceptibility to |
| RS80168454 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Basal cell carcinoma, susceptibility to |
| RS771498368 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2521979430 | Health Risk | Pathogenic | Gorlin syndrome, Basal cell carcinoma, susceptibility to |
| RS587776628 | Health Risk | Pathogenic | Basal cell carcinoma, somatic, Basal cell carcinoma |