POT1

protection of telomeres 1
OMIM: 606478, Gene2Phenotype

5 panels

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


Version 2.4
Latest signed off version: v2.0 (30 Nov 2022)

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
Red POT1 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
No list POT1 in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
Phenotypes
  • Multiple myeloma
Red POT1 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

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


    Version 1.3
    Latest signed off version: v1.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green