KNG1 was first reported in relation to high molecular weight kininogen (HMWK) deficiency in 1990 (Hayashi et al, PMID: 1968772). This curation is considered a gene-deficiency curation, due to the lack of evidence supporting this gene being involved in any disease or disorder beyond a prolonged PTT. Evidence supporting this gene-deficiency curation includes case-level data, segregation data, and experimental data. At least 6 unique variants (nonsense and frameshift) have been reported in humans. Variants in this gene have been reported in at least 8 probands in over 8 publications. Variants in this gene segregated with kininogen deficiency in 2 additional family members. The gene-deficiency relationship is supported by an animal model (Merkulov et al, PMID: 18000168) and expression studies (Krijanovski et al, PMID: 12576314). In summary, KNG1 is definitively associated with (high molecular weight) kininogen deficiency. This has been repeatedly demonstrated in both the research and the 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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