PTCH2:Ensemblv90

patched 2
OMIM: 603673, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PTCH2 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.153

1 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 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Duplication of pituitary gland
  • Basal cell carcinoma, somatic 605462
  • Basal cell nevus syndrome, 109400
  • Medulloblastoma, somatic