PTCH2

patched 2
OMIM: 603673, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PTCH2 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

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 1.1902

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