Inherited polyposis

Gene: NTHL1

Green List (high evidence)

NTHL1 (nth like DNA glycosylase 1)
EnsemblGeneIds (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)

Green List (high evidence)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Lara Hawkes (Genomics England)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ian Tomlinson (University of Oxford)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Mode of pathogenicity
Other

Ian Frayling (Cardiff University)

Red List (low evidence)

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 Risk
Created: 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)

Green List (high evidence)

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 616415
OMIM
602656
Clinvar variants
Variants in NTHL1
Penetrance
None
Panels with this gene

History Filter Activity

3 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: nthl1 has been classified as Green List (High Evidence).

2 Aug 2019, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Familial adenomatous polyposis 3 616415 for gene: NTHL1

1 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: nthl1 has been classified as Amber List (Moderate Evidence).

31 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: nthl1 has been classified as Amber List (Moderate Evidence).

30 Jan 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: NTHL1 was changed from to BIALLELIC, autosomal or pseudoautosomal

30 Jan 2019, Gel status: 1

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