Genomics England
GMS Panels
Panels
Genes and Entities

POT1

protection of telomeres 1
OMIM: 606478
PanelMode of inheritanceDetails
3 panels
Green
in Familial melanoma
R-numbers: R254
Signed-off version 2.15
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Melanoma, cutaneous malignant, susceptibility to, 10, OMIM:615848
Green
in Haematological malignancies cancer susceptibility
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tumor predisposition syndrome 3, OMIM:615848, Lymphoid and myeloid cancers, Multiple myeloma
Green
in Li Fraumeni Syndrome
R-numbers: R216
Signed-off version 1.7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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