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| Li Fraumeni Syndrome v1.4 | POT1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #61584 & #620367) and the OMIM records were last accessed on 20 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Li Fraumeni Syndrome v1.4 | POT1 | Achchuthan Shanmugasundram Phenotypes for gene: POT1 were changed from to 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Li Fraumeni Syndrome v0.7 | POT1 | Sarah Leigh reviewed gene: POT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Li Fraumeni Syndrome v0.6 | POT1 |
Sarah Leigh gene: POT1 was added gene: POT1 was added to Li Fraumeni Syndrome. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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