1. Genes and Genomic Entities
  2. POT1

POT1

protection of telomeres 1
OMIM: 606478, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green POT1 in Familial melanoma


Level 2: Inherited cancer
Version 2.16
Latest signed off version: v2.15 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert List
Phenotypes
  • Melanoma, cutaneous malignant, susceptibility to, 10, OMIM:615848
Green POT1 in Haematological malignancies cancer susceptibility


Level 2: Cancer susceptibility
Version 5.1
Latest signed off version: v5.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Tumor predisposition syndrome 3, OMIM:615848
  • Lymphoid and myeloid cancers
  • Multiple myeloma
Red POT1 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • Coats Plus
    Green POT1 in Li Fraumeni Syndrome


    Level 2: Inherited cancer
    Version 1.8
    Latest signed off version: v1.7 (12 Aug 2026)

    		review 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