POT1

protection of telomeres 1
OMIM: 606478, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green POT1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary neoplastic syndrome, MONDO:0015356, POT1-related

Green POT1 in Incidentalome


Version 0.301

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary neoplastic syndrome, MONDO:0015356, POT1-related
Tags
  • cancer

Red POT1 in NCGC


Version 0.2

review Other
Sources
  • NCGC
Phenotypes
  • Melanoma, cutaneous malignant, susceptibility to, 10

Red POT1 in TCGA_PANCAN_2018


Version 0.2

review Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Melanoma, cutaneous malignant, susceptibility to, 10

Green POT1 in Incidentalome_PREGEN_DRAFT


Version 0.43

review Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green