Familial melanoma
Gene: POT1
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 10:25 a.m. | Last Modified: 3 Mar 2022, 10:25 a.m.
Panel Version: 1.12
Comment on list classification: Based on evidence provided by several publications, POT1 should be considered for a rating upgrade from Amber to Green, and therefore will be flagged for review at the date of next GMS panel update (added 'for-review' tag).Created: 2 Oct 2020, 3:33 p.m. | Last Modified: 2 Oct 2020, 3:33 p.m.
Panel Version: 1.5
Multiple studies implicate POT1 germline variants in familial melanoma susceptibility in a variety of different populations.Created: 2 Oct 2020, 3:30 p.m. | Last Modified: 2 Oct 2020, 3:30 p.m.
Panel Version: 1.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Melanoma, cutaneous malignant, susceptibility to, 10, 615848
Publications
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, 9:42 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: POT1.
Source Expert Review Green was added to POT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: POT1 were changed from Melanoma, cutaneous malignant, susceptibility to, 10, 615848 to Melanoma, cutaneous malignant, susceptibility to, 10, OMIM:615848
Publications for gene: POT1 were set to 24686849; 24686846; 29523635; 30451293; 30586141; 32325837
Tag for-review tag was added to gene: POT1.
Phenotypes for gene: POT1 were changed from to Melanoma, cutaneous malignant, susceptibility to, 10, 615848
Publications for gene: POT1 were set to
Gene: pot1 has been classified as Amber List (Moderate Evidence).
Gene: pot1 has been classified as Amber List (Moderate Evidence).
Gene: pot1 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: POT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
gene: POT1 was added gene: POT1 was added to Familial melanoma. Sources: Expert List,NHS GMS Mode of inheritance for gene: POT1 was set to