Genodermatoses with malignancies

Gene: PTCH1

Green List (high evidence)

PTCH1 (patched 1)
EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 19 panels

1 review

Ajith Kumar (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
multiple basal cell carcinomas, macrocephaly, medulloblastoma, dural calcification, odontogenic keratocysts

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Basal cell nevus syndrome, 109400
  • Basal cell carcinoma, somatic, 605462
  • Holoprosencephaly-7, 610828
  • Nevoid Basal Cell Carcinoma Syndrome (aka Gorlin syndrome)
  • Basal Cell Nevus Syndrome (aka Gorlin syndrome)
  • Basal cell nevus syndrome
  • Nevoid Basal Cell Carcinoma Syndrome
  • (originally on Gorlin syndrome gene panel)
OMIM
601309
Clinvar variants
Variants in PTCH1
Penetrance
Complete
Panels with this gene

History Filter Activity

15 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Feb 2016, Gel status: 3

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for PTCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH1 was added to Genodermatoses with malignanciespanel. Source: Eligibility statement prior genetic testing

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH1 was added to Genodermatoses with malignanciespanel. Source: Expert

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH1 was added to Genodermatoses with malignanciespanel. Source: UKGTN

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH1 was added to Genodermatoses with malignanciespanel. Source: Illumina TruGenome Clinical Sequencing Services

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH1 was added to Genodermatoses with malignanciespanel. Source: Radboud University Medical Center, Nijmegen

27 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH1 was added to Genodermatoses with malignanciespanel. Source: Eligibility statement prior genetic testing

27 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH1 was added to Genodermatoses with malignanciespanel. Source: UKGTN

27 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH1 was added to Genodermatoses with malignanciespanel. Source: Illumina TruGenome Clinical Sequencing Services

27 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH1 was added to Genodermatoses with malignanciespanel. Source: Radboud University Medical Center, Nijmegen

17 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH1 was added to Genodermatoses with malignanciespanel. Sources: Eligibility statement prior genetic testing

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH1 was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

17 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH1 was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

17 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH1 was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN