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  3. NTHL1
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Colorectal cancer pertinent cancer susceptibility

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

1 review

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Established cause of recessive adenomatous polyposis.
Created: 2 Oct 2017, 2:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FAP3

Publications

  • Nat Genet. 2015 Jun
  • 47(6):668-71.

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

Created: 2 Oct 2017, 2:05 p.m.

Panel version: 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Familial adenomatous polyposis 3 616415
OMIM
602656
Clinvar variants
Variants in NTHL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Ian Berry: Established cause of recessive

5 Oct 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NTHL1 were set to Familial adenomatous polyposis 3 616415

5 Oct 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NTHL1 were set to 25938944

5 Oct 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Oct 2017, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

NTHL1 was added to Colorectal cancerpanel. Sources: UKGTN,Literature

2 Oct 2017, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

NTHL1 was created by [email protected]