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Basal Cell Cancer

Gene: PTCH2

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

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

A number of case/family reports have proposed PTCH2 as a putative Gorlin Syndrome (GS) gene, but evidence to support this is lacking. PMID: 34170463 paper found no pathogenic or likely pathogenic PTCH2 variants in cohort of 21 PTCH1/SUFU negative GS families.
They assessed evidence from reported cases/families with PTCH2 variants, and determined that none of the previously published PTCH2 variants in GS families/cases could be considered pathogenic or likely pathogenic using current guidelines. There is also a high frequency of Loss-of-function (LoF) variants in the general population, including the presence of homozygous LoF variants without a clinical phenotype.
Sources: Literature, Expert Review
Created: 12 Sep 2024, 3:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal cell carcinoma, MONDO:0020804; Nevoid basal cell carcinoma syndrome, MONDO:0007187

Publications

Created: 12 Sep 2024, 3:10 a.m.

Panel version: 0.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
  • Literature
Phenotypes
  • Basal cell carcinoma, MONDO:0020804
  • Nevoid basal cell carcinoma syndrome, MONDO:0007187
OMIM
603673
Clinvar variants
Variants in PTCH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptch2 has been classified as Red List (Low Evidence).

12 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: PTCH2 was added gene: PTCH2 was added to Basal Cell Cancer. Sources: Literature,Expert Review Mode of inheritance for gene: PTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTCH2 were set to PMID: 34170463, 18285427, 23479190, 30820324, 38354379 Phenotypes for gene: PTCH2 were set to Basal cell carcinoma, MONDO:0020804; Nevoid basal cell carcinoma syndrome, MONDO:0007187 Review for gene: PTCH2 was set to RED