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| Bone Marrow Failure v1.59 | POT1 | Zornitza Stark Marked gene: POT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.59 | POT1 | Zornitza Stark Gene: pot1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.59 | POT1 | Zornitza Stark Classified gene: POT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.59 | POT1 | Zornitza Stark Gene: pot1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.58 | POT1 |
Bryony Thompson gene: POT1 was added gene: POT1 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: POT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POT1 were set to 33119245 Phenotypes for gene: POT1 were set to Hereditary neoplastic syndrome, MONDO:0015356, POT1-related Review for gene: POT1 was set to GREEN gene: POT1 was marked as current diagnostic Added comment: Well-established telomere disorder with a variety of solid and haematological malignancies reported. The mechanism of disease is loss of function leading to overall telomere lengthening, and resulting in fragile and dysfunctional telomeres. Sources: Expert list |
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