GI tract tumours
Gene: NTHL1As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 12:26 p.m. | Last Modified: 31 Jul 2019, 12:26 p.m.
Panel Version: 1.13
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity
Other
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Ian Berry (Leeds Genetics Laboratory) recorded this gene as being used in current diagnosis (October 2017)Created: 5 Oct 2017, 11:36 a.m.
Comment on phenotypes: Gastrointestinal and Colorectal Cancer High RiskCreated: 12 May 2017, 12:40 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Expert review plus literature search.Created: 28 Feb 2016, 4:05 p.m.
Source Expert List was added to NTHL1. Source NHS GMS was added to NTHL1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This panel has been formed as a result of merging Familial colon cancer (Version 1.5), Multiple bowel polyps (Version 1.9), Peutz-Jeghers syndrome (Version 0.20) panels and copying the reviews from each panel into this united GI Tract panel
Publications for NTHL1 were set to 25938944
Phenotypes for NTHL1 were set to Familial adenomatous polyposis 3 616415
NTHL1 was added to GI tractpanel. Source: Research
NTHL1 was added to GI tractpanel. Sources: Expert Review,Literature,Expert Review Green
NTHL1 was created by ellenmcdonagh