Familial Tumours Syndromes of the central & peripheral Nervous system

Gene: PTCH1

Green List (high evidence)

PTCH1 (patched 1)
EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 21 panels

1 review

Ellen Thomas (Genomics England Curator)

Comment on list classification: Risk of medulloblastoma in children; may occur before other features have become apparent.
Created: 27 May 2016, 7:55 a.m.

History Filter Activity

27 May 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).

27 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

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

27 May 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).

23 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

27 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Emory Genetics Laboratory

22 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PTCH1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Emory Genetics Laboratory