Genodermatoses with malignancies

Gene: PTCH2

Amber List (moderate evidence)

PTCH2 (patched 2)
EnsemblGeneIds (GRCh38): ENSG00000117425
EnsemblGeneIds (GRCh37): ENSG00000117425
OMIM: 603673, Gene2Phenotype
PTCH2 is in 3 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

Added watchlist tag. Look out for 3rd case.
Created: 15 May 2018, 1:53 p.m.
Comment on list classification: Rating as Amber as pathogenic/likely pathogenic germline variants found in 2 cases.
Created: 15 May 2018, 12:26 p.m.
Comment on phenotypes: Added Basal cell nevus syndrome 109400 as a phenotype (another name for Gorlin syndrome)
Created: 15 May 2018, 12:26 p.m.
Gorlin syndrome is also known as Basal cell nevus syndrome. In OMIM PTCH2 is associated with Basal cell nevus syndrome based on evidence from Fan et al. (2008) (PMID: 18285427) who report 6 affected members of a Chinese Han family with autosomal dominant basal cell nevus syndrome. A heterozygous 2157G-A transition in the PTCH2 gene, which results in a arg719-to-gln substitution. The mutation was not identified in 520 control individuals. OMIM also reports that somatic mutations in the PTCH2 gene have been identified in basal cell carcinoma (605462) and in medulloblastoma (155255), both of which are features of the nevoid basal cell carcinoma syndrome (Smyth et al. (1999), PMID:9931336). Clinvar reports another pathogenic/likely pathogenic mutation from a patient with Gorlin syndrome - a germline frameshift mutation due to a 2-bp deletion in PTCH2 resulting in a truncated form of the PTCH2 protein reported by Fujii et al 2013 (PMID: 23479190). Pubmed search, Jensen Lab, Orphanet and Gene2Phenotype searches did not find additional cases. Rating as Amber as pathogenic/likely pathogenic germline variants found in 2 cases.
Created: 15 May 2018, 11:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Details

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
OMIM
603673
Clinvar variants
Variants in PTCH2
Penetrance
Complete
Panels with this gene

History Filter Activity

15 May 2018, Gel status: 2

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

15 May 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for PTCH2 were set to Medulloblastoma; Basal cell carcinoma, somatic; (originally on Gorlin syndrome gene panel); Basal cell nevus syndrome 109400

28 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH2 was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen