ETV6 was first reported in relation to autosomal dominant thrombocytopenia 5 in 2015 (Zhang et al., 2015; PMID: 25581430). At least 16 unique variants (largely missense, but also nonsense and frameshift) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, segregation data, and experimental data. Variants in this gene have been reported in at least 20 probands in 7 publications (PMIDs: 25581430, 25807284, 26102509, 27365488, 27663637, 26522332, 29034503). Variants in this gene segregated with disease in 51 additional family members. This gene-disease relationship is supported by the biochemical function of ETV6 as a master hematopoietic transcription factor (PMID: 10514502), it’s functional alteration in both patient (PMID: 27365488, 27663637) and non-patient cells (PMIDs: 25581430, 25807284), as well as a knockdown Zebrafish model (PMID: 25281506) and a conditional knockout mouse model (PMID: 15371326). In summary, ETV6 is definitively associated with autosomal dominant thrombocytopenia 5. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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