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  3. POT1
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Li Fraumeni Syndrome

Gene: POT1

Green List (high evidence)
POT1 (protection of telomeres 1)
EnsemblGeneIds (GRCh38): ENSG00000128513
EnsemblGeneIds (GRCh37): ENSG00000128513
OMIM: 606478, Gene2Phenotype
POT1 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #61584 & #620367) and the OMIM records were last accessed on 20 December 2025.
Created: 20 Dec 2025, 7:08 p.m. | Last Modified: 20 Dec 2025, 7:08 p.m.
Panel Version: 1.4
Created: 20 Dec 2025, 7:08 p.m.
Last Modified: 20 Dec 2025, 7:08 p.m.
Panel version: 1.4

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Created: 31 Jan 2023, 3:18 p.m. | Last Modified: 31 Jan 2023, 3:18 p.m.
Panel Version: 0.7
Created: 31 Jan 2023, 3:18 p.m.
Last Modified: 31 Jan 2023, 3:18 p.m.
Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Tumor predisposition syndrome 3, OMIM:615848
  • ?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8, OMIM:620367
  • tumor predisposition syndrome 3, MONDO:0014368
OMIM
606478
Clinvar variants
Variants in POT1
Penetrance
None
Panels with this gene

History Filter Activity

20 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: POT1 were changed from to Tumor predisposition syndrome 3, OMIM:615848; ?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8, OMIM:620367; tumor predisposition syndrome 3, MONDO:0014368

31 Jan 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

gene: POT1 was added gene: POT1 was added to Li Fraumeni Syndrome. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown