TELO2 was first reported in relation to autosomal recesssive syndromic intellectual disability and neurodevelopmental disorder in 2016 (You et al., PMID:27132593). TELO2-related intellectual disability-neurodevelopmental disorder (You-Hoover-Fong syndrome) is characterized by delayed global development, microcephaly, abnormal balance, and a movement disorder. At least 11 variants (including missense, nonsense, frameshift, exonic deletion) have been reported (PMID: 28944240, 33307281, 32940098). Evidence supporting this gene-disease relationship includes case-level and experimental data. In summary, there is definitive evidence supporting the relationship between TELO2 and TELO2-related intellectual disability-neurodevelopmental disorder. This classification was approved by the ClinGen Intellectual Disability and Autism Gene Curation Expert Panel on June 1, 2022 (SOP Version 9).
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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