Inherited polyposis and early onset colorectal cancer - germline testing
Gene: NTHL1Comment 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.
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity
Other
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
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 RiskCreated: 12 May 2017, 12:40 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Colorectal cancer
Comment on list classification: Expert review plus literature search.Created: 28 Feb 2016, 4:05 p.m.
Phenotypes for gene: NTHL1 were changed from Familial adenomatous polyposis 3, OMIM:616415 to Familial adenomatous polyposis 3, OMIM:616415; NTHL1-related attenuated familial adenomatous polyposis, MONDO:0014630
Phenotypes for gene: NTHL1 were changed from Familial adenomatous polyposis 3 616415 to Familial adenomatous polyposis 3, OMIM:616415
Gene: nthl1 has been classified as Green List (High Evidence).
Added phenotypes Familial adenomatous polyposis 3 616415 for gene: NTHL1
Gene: nthl1 has been classified as Amber List (Moderate Evidence).
Gene: nthl1 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: NTHL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
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