PTCH2

patched 2
OMIM: 603673, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PTCH2 in Genodermatoses with malignancies

Level 3: Skin
Level 2: Tumour syndromes
Version 1.6

review Not set
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Medulloblastoma
  • Basal cell carcinoma, somatic
  • (originally on Gorlin syndrome gene panel)
  • Basal cell nevus syndrome 109400
Tags
  • watchlist

Amber PTCH2 in Hydrocephalus


Version 2.99
Latest signed off version: v2.3 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Basal cell nevus syndrome, OMIM:109400
Tags
  • watchlist

No list PTCH2 in Multiple monogenic benign skin tumours


Version 1.12
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Basal cell naevus (Gorlin) syndrome
Tags
  • curated_removed