PTCH2

patched 2
OMIM: 603673, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red PTCH2 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Basal cell nevus syndrome, MIM#109400

Red PTCH2 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Basal cell carcinoma, somatic 605462
  • Basal cell nevus syndrome, 109400
  • Medulloblastoma, somatic

Red PTCH2 in Basal Cell Cancer


Level 2: Cancer Predisposition
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
  • Literature
Phenotypes
  • Basal cell carcinoma, MONDO:0020804
  • Nevoid basal cell carcinoma syndrome, MONDO:0007187