POT1

protection of telomeres 1
OMIM: 606478, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber POT1 in Familial melanoma


Version 1.10
Latest signed off version: v1.2 (4 Mar 2020)

review 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

Red POT1 in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Red POT1 in DDG2P


Version 2.29
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • Coats Plus