GI tract tumours
Gene: NTHL1EnsemblGeneIds (GRCh38): ENSG00000065057
EnsemblGeneIds (GRCh37): ENSG00000065057
OMIM: 602656, Gene2Phenotype
NTHL1 is in 5 panels
7 reviews
Ivone Leong (Genomics England Curator)
As 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
Rachel Robinson (Leeds Genetics Laboratory)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ian Tomlinson (University of Oxford)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity
Other
Ian Frayling (Cardiff University)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
- Weren, Robbert DA, et al. "A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer." Nature genetics 47.6 (2015): 668-671.
Sarah Leigh (Genomics England Curator)
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
Ellen Thomas (Genomics England Curator)
Comment on list classification: Expert review plus literature search.Created: 28 Feb 2016, 4:05 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert List
- Research
- Expert Review Green
- Expert Review
- Literature
- Phenotypes
-
- Familial adenomatous polyposis 3 616415
- OMIM
- 602656
- Clinvar variants
- Variants in NTHL1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Added New Source, Status Update
Ivone Leong (Genomics England Curator)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)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)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
Set publications
Sarah Leigh (Genomics England Curator)Publications for NTHL1 were set to 25938944
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NTHL1 were set to Familial adenomatous polyposis 3 616415
Added New Source
Ellen McDonagh (Genomics England Curator)NTHL1 was added to GI tractpanel. Source: Research
Added New Source
Ellen McDonagh (Genomics England Curator)NTHL1 was added to GI tractpanel. Sources: Expert Review,Literature,Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)NTHL1 was created by ellenmcdonagh