TCOF1 was reported in relation to Treacher Collins syndrome (TCS) in 1996 (Gladwin et al., 8894686). At least 12 unique variants (nonsense, frameshift, and splicing) 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 13 probands in 6 publications (22317976, 29230583, 31307516, 8894686, 25790162, 30390570). Variants in this gene segregated in 9 additional family members. More evidence is available in the literature, but the maximum score for genetic evidence and experimental evidence (12 pts.) has been reached. The mechanism of disease is haploinsufficiency. This gene-disease association is supported by animal models and expression studies. In summary, TCOF1 is definitively associated with autosomal dominant Treacher Collins syndrome.
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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