MPIG6B was first reported in relation to autosomal recessive Thrombocytopenia, anemia, and myelofibrosis in 2017 (Melhem et al., 2017; PMID: 27743390). At least 5 unique variants (e.g. missense, splicing, 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 6 probands in 3 publications (PMIDs: 27743390, 29898956, 31276734). Variants in this gene segregated with disease in 7 additional family members. This gene-disease association is supported by its enhanced expression in lymphoid tissue (PMID: 17311996), its inhibitory biochemical function in platelet activation (PMID: 17311996), and mouse models (including knockout, knock-in, megakaryocyte specific conditional knockout, and humanized models) which recapitulate human disease (PMIDs: 23112346, 23509158, 29891536, 29898956). In summary, MPIG6B is definitively associated with autosomal recessive Thrombocytopenia, anemia, and myelofibrosis.
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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