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  3. NTHL1
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Incidentalome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported with a hereditary cancer syndrome predisposing to adenomatous polyposis and colorectal cancer. Half of biallelic carriers also displayed multiple colonic or extra-colonic primary tumors, mainly breast, endometrium, urothelium, and brain tumours. For digestive cancers, average age at diagnosis was 56.2 years.
Sources: Literature
Created: 14 Apr 2021, 7:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NTHL1-associated cancer syndrome

Publications

Created: 14 Apr 2021, 7:21 a.m.

Panel version: 0.60

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • NTHL1-associated cancer syndrome
OMIM
602656
Clinvar variants
Variants in NTHL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2021, 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).

14 Apr 2021, 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).

14 Apr 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NTHL1 was added gene: NTHL1 was added to Incidentalome. Sources: Literature Mode of inheritance for gene: NTHL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NTHL1 were set to 33454955 Phenotypes for gene: NTHL1 were set to NTHL1-associated cancer syndrome Review for gene: NTHL1 was set to GREEN