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| Incidentalome v0.232 | POT1 | Zornitza Stark Marked gene: POT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.232 | POT1 | Zornitza Stark Gene: pot1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.232 | POT1 | Zornitza Stark Phenotypes for gene: POT1 were changed from Tumour predisposition with variety of solid and haematological malignancies reported. to Hereditary neoplastic syndrome, MONDO:0015356, POT1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.231 | POT1 | Zornitza Stark Classified gene: POT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.231 | POT1 | Zornitza Stark Gene: pot1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.230 | POT1 | Zornitza Stark Tag cancer tag was added to gene: POT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.230 | POT1 | Zornitza Stark reviewed gene: POT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary neoplastic syndrome, MONDO:0015356, POT1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.230 | POT1 |
Edward Chew gene: POT1 was added gene: POT1 was added to Incidentalome. 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 (PMID:27528712; PMID: 29693246; PMID: 34769003; PMID: 36467798; PMID: 33216348; PMID: 24686849; PMID:24686846; PMID: 26403419; PMID: 32492864) Phenotypes for gene: POT1 were set to Tumour predisposition with variety of solid and haematological malignancies reported. Penetrance for gene: POT1 were set to Incomplete Review for gene: POT1 was set to GREEN Added comment: CLL (PMID: 27528712, published 2016) identified 4 families with POT1 variants and CLL. Aberrant splicing of intron 13 (chromosome 7 g.124481233C.T/c.1164-1G.A) confirmed by RT-PCR. Missense p.Tyr36Cys and p.Gln376Arg predicted to be pathogenic by in silico methods. p.Gln358SerfsTer13 predicted to cause premature truncation. Hodgkin Lymphoma (PMID: 29693246, published 2018) identified 2 families with POT1 variants and Hodgkin lymphoma. p.Asp224Asn in 4 carriers with Hodgkin lymphoma. Variant validated functionally. p.Tryp26His in 2 carriers with Hodgkin lymphoma. Some functional validation performed. AML (PMID: 34769003, published 2021) identified p.Q199* in a 8yo with AML and monosomy 7. Unaffected father, de novo status of variant not confirmed. Some functional validation (but conflicting). Multiple myeloma (PMID: 36467798, published 2022) looked at inherited predisposition for multiple myeloma. Identified 4 families with POT1 variants who have myeloma, thyroid cancer, and AML. Functional validation not performed. Multiple haematological malignancies, cutaneous melanoma and solid cancers in a family from Queensland (PMID: 33216348, published 2020). The variant p.D224N has been reported and functionally validated by other authors. Cutaneous melanoma (PMID: 24686849; PMID:24686846, published in same issue of journal in 2014) identified families with strong family history of melanoma. PMID: 24686849 identified 4 families with 4 different POT1 variants. PMID 24686846 identified 5 families with same founder p.Ser270Asn variant. Functional validation of pathogenicity performed in the 2 papers. Li-Fraumeni Like syndrome (PMID: 26403419 published 2015) identified 3 families with p.R117C variant and strong family history of Li-Fraumeni Like syndrome. Variant functionally validated. Medullary thyroid cancer (PMID: 32492864 published 2020) identified 1 family with p.V29L. The variant segregates with papillary thyroid cancer. Some functional validation performed. Sources: Expert list |
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