This Panel is marked as Retired
Multiple bowel polyps
Gene: NTHL1
NTHL1 (nth like DNA glycosylase 1)
EnsemblGeneIds (GRCh38): ENSG00000065057
EnsemblGeneIds (GRCh37): ENSG00000065057
OMIM: 602656, Gene2Phenotype
NTHL1 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000065057
EnsemblGeneIds (GRCh37): ENSG00000065057
OMIM: 602656, Gene2Phenotype
NTHL1 is in 5 panels
1 review
Ellen Thomas (Genomics England Curator)
Comment on list classification: More than 3 families with homozygous or compound heterozygous LOF mutations with FAP.Created: 29 Jan 2016, 4:43 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Multiple colorectal adenomas
- colorectal cancer
- OMIM
- 602656
- Clinvar variants
- Variants in NTHL1
- Penetrance
- Complete
- 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.
- Panels with this gene
History Filter Activity
29 Jan 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Jan 2016, Gel status: 4
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for NTHL1 was changed to BIALLELIC, autosomal or pseudoautosomal
29 Jan 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
8 Dec 2015, Gel status: 0
Added New Source
Ian Frayling (Cardiff University)NTHL1 was added to Multiple bowel polypspanel. Sources: Research,Literature
8 Dec 2015, Gel status: 0
Created
Ian Frayling (Cardiff University)NTHL1 was created by Frayli01