KIAA1199 (CEMIP) was first reported in relation to autosomal recessive nonsyndromic hearing loss in 2003 (Abe et al., PMID: 14577002). At least 1 synonymous and 3 missense variants have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Two probands were noted to have affected siblings, however these siblings were not sequenced or well phenotyped. One individual was reported as compound heterozygous, and shown to have inherited one variant from each unaffected parent. The other 3 cases are reported as heterozygous, with no inheritance information or parental sequencing. This gene-disease association is supported by expression studies that show the gene to be expressed in the cochlea of the mouse, rat and marmoset. In summary, there is no convincing genetic evidence supporting the association between KIAA1199 and nonsyndromic hearing loss, so this association is disputed. More evidence is needed to either support or refute the role KIAA1199 plays in this disease. This classification was approved by the ClinGen Hearing Loss Working Group on 7/17/2018.
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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