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  3. NTHL1
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Colorectal Cancer and 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 2 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert Review
Created: 25 Sep 2024, 10:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; NTHL1-deficiency tumor predisposition syndrome, MONDO:0100502; Familial adenomatous polyposis 3, MIM#616415

Created: 25 Sep 2024, 10:26 p.m.

Panel version: 0.27

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Colorectal cancer, MONDO:0005575
  • Polyposis, MONDO:0000147
  • NTHL1-deficiency tumor predisposition syndrome, MONDO:0100502
  • Familial adenomatous polyposis 3, MIM#616415
OMIM
602656
Clinvar variants
Variants in NTHL1
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

25 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: NTHL1 was added gene: NTHL1 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review Mode of inheritance for gene: NTHL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NTHL1 were set to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; NTHL1-deficiency tumor predisposition syndrome, MONDO:0100502; Familial adenomatous polyposis 3, MIM#616415 Review for gene: NTHL1 was set to GREEN