1. Genes and Genomic Entities
  2. PTCH2

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 1.11

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


Level 2: Neurology
Version 5.8
Latest signed off version: v5.0 (7 Aug 2024)

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


Level 2: Dermatology
Version 2.5
Latest signed off version: v2.0 (30 Nov 2022)

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