Familial melanoma
Gene: POT1EnsemblGeneIds (GRCh38): ENSG00000128513
EnsemblGeneIds (GRCh37): ENSG00000128513
OMIM: 606478, Gene2Phenotype
POT1 is in 4 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
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
Ivone Leong (Genomics England Curator)
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.
Rachel Robinson (Leeds Genetics Laboratory)
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Expert List
- Phenotypes
-
- Melanoma, cutaneous malignant, susceptibility to, 10, OMIM:615848
- OMIM
- 606478
- Clinvar variants
- Variants in POT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag for-review was removed from gene: POT1.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to POT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: POT1 were changed from Melanoma, cutaneous malignant, susceptibility to, 10, 615848 to Melanoma, cutaneous malignant, susceptibility to, 10, OMIM:615848
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: POT1 were set to 24686849; 24686846; 29523635; 30451293; 30586141; 32325837
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: POT1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: POT1 were changed from to Melanoma, cutaneous malignant, susceptibility to, 10, 615848
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: POT1 were set to
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: pot1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pot1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pot1 has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: POT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)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