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Familial melanoma

Gene: POT1

Amber List (moderate evidence)

POT1 (protection of telomeres 1)
EnsemblGeneIds (GRCh38): ENSG00000128513
EnsemblGeneIds (GRCh37): ENSG00000128513
OMIM: 606478, Gene2Phenotype
POT1 is in 3 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Lara Hawkes (Genomics England)

I don't know

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert List
Phenotypes
  • Melanoma, cutaneous malignant, susceptibility to, 10, OMIM:615848
Tags
for-review
OMIM
606478
Clinvar variants
Variants in POT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2021, Gel status: 2

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

7 Apr 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: POT1 were set to 24686849; 24686846; 29523635; 30451293; 30586141; 32325837

2 Oct 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: POT1.

2 Oct 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: POT1 were changed from to Melanoma, cutaneous malignant, susceptibility to, 10, 615848

2 Oct 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: POT1 were set to

2 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pot1 has been classified as Amber List (Moderate Evidence).

1 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pot1 has been classified as Amber List (Moderate Evidence).

31 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pot1 has been classified as Amber List (Moderate Evidence).

30 Jan 2019, Gel status: 1

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

30 Jan 2019, Gel status: 1

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