Inherited polyposis and early onset colorectal cancer - germline testing
Gene: NTHL1EnsemblGeneIds (GRCh38): ENSG00000065057
EnsemblGeneIds (GRCh37): ENSG00000065057
OMIM: 602656, Gene2Phenotype
NTHL1 is in 5 panels
8 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: This gene has been promoted from amber to green after further discussion with the GMS Inherited Cancer Specialist Test Group.Created: 3 Sep 2019, 9:14 a.m. | Last Modified: 3 Sep 2019, 9:14 a.m.
Panel Version: 0.55
Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.Created: 1 Feb 2019, 10:08 a.m.
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
Clare Turnbull (Queen Mary University London)
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Colorectal cancer
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
-
- Expert Review Green
- NHS GMS
- Expert List
- Phenotypes
-
- Familial adenomatous polyposis 3, OMIM:616415
- NTHL1-related attenuated familial adenomatous polyposis, MONDO:0014630
- OMIM
- 602656
- Clinvar variants
- Variants in NTHL1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NTHL1 were changed from Familial adenomatous polyposis 3, OMIM:616415 to Familial adenomatous polyposis 3, OMIM:616415; NTHL1-related attenuated familial adenomatous polyposis, MONDO:0014630
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NTHL1 were changed from Familial adenomatous polyposis 3 616415 to Familial adenomatous polyposis 3, OMIM:616415
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: nthl1 has been classified as Green List (High Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Familial adenomatous polyposis 3 616415 for gene: NTHL1
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: nthl1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: nthl1 has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: NTHL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: NTHL1 was added gene: NTHL1 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: NTHL1 was set to