HOXA11 was first reported in relation to autosomal dominant radioulnar synostosis with amegakaryocytic thrombocytopenia 1 (RUSAT 1) in 2000 (Thompson AA, et al; PMID: 11101832). RUSAT is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by Niihori et al., 2015; PMID: 26581901). One frameshift variant (c.872del) has been reported in two probands in one publication (PMID: 11101832), segregating in four additional affected family members. This gene-disease association is supported by its expression during limb development and a mouse model with skeletal malformations in the limbs (PMID: 7902826), as well as its expression and function in early hematopoietic development (PMID: 16765069). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.
This gene-disease pair was previously evaluated by the HT GCEP on April 28, 2021. It was reevaluated on September 4, 2024. As a result of this reevaluation no new evidence was identified and the classification remained Limited (SOP Version 10).
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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