Childhood solid tumours
Gene: PTCH1
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Gorlin syndrome
Comment on list classification: Established association with medulloblastomaCreated: 7 Mar 2016, 11:49 p.m.
Phenotypes for gene: PTCH1 were changed from Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome to Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome
Phenotypes for gene: PTCH1 were changed from 109400; Gorlin syndrome to Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome
Source NHS GMS was added to PTCH1. Mode of inheritance for gene PTCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Gorlin syndrome for gene: PTCH1 Publications for gene PTCH1 were changed from 8326488 to 13851319
Source Expert List was added to PTCH1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
PTCH1 was created by Reviewer_03
PTCH1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Expert list