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Since then, there have been a number of case series and single case reports published worldwide. A comprehensive review of the literature was carried out. Abstracts were screened, relevant literature was analysed, and descriptions of common phenotypic features were quantified.\n                    <jats:italic>ASXL3<\/jats:italic>\n                    variants were collated and categorised. Common phenotypic features comprised global developmental delay or intellectual disability (97%), feeding problems (76%), hypotonia (88%) and characteristic facial features (93%). The majority of genetic variants were de novo truncating variants in exon 11 or 12 of the\n                    <jats:italic>ASXL3<\/jats:italic>\n                    gene. Several gaps in our knowledge of this disorder were identified, namely, underlying pathophysiology and disease mechanism, disease contribution of missense variants, relevance of variant location, prevalence and penetrance data. Clinical information is currently limited by patient numbers and lack of longitudinal data, which this review aims to address.\n                  <\/jats:p>","DOI":"10.1111\/cge.14506","type":"journal-article","created":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T03:59:28Z","timestamp":1709179168000},"page":"470-487","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["ASXL3\u2010related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism"],"prefix":"10.1111","volume":"105","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2349-2688","authenticated-orcid":false,"given":"Emily","family":"Woods","sequence":"first","affiliation":[{"name":"Sheffield Clinical Genetics Service Sheffield Children's Hospital  Sheffield UK"},{"name":"Division of Clinical Medicine, School of Medicine and Population Health University of Sheffield  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Holmes","sequence":"additional","affiliation":[{"name":"Sheffield Diagnostic Genetics Service Sheffield Children's Hospital  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shadi","family":"Albaba","sequence":"additional","affiliation":[{"name":"Sheffield Diagnostic Genetics Service Sheffield Children's Hospital  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3485-4456","authenticated-orcid":false,"given":"Iwan R.","family":"Evans","sequence":"additional","affiliation":[{"name":"Division of Clinical Medicine, School of Medicine and Population Health University of Sheffield  Sheffield UK"},{"name":"The Bateson Centre University of Sheffield  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1488-3695","authenticated-orcid":false,"given":"Meena","family":"Balasubramanian","sequence":"additional","affiliation":[{"name":"Sheffield Clinical Genetics Service Sheffield Children's Hospital  Sheffield UK"},{"name":"Division of Clinical Medicine, School of Medicine and Population Health University of Sheffield  Sheffield UK"},{"name":"The Bateson Centre University of Sheffield  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,2,29]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/gm415"},{"key":"e_1_2_13_3_1","first-page":"1993","volume-title":"GeneReviews [Internet]","author":"Balasubramanian M","year":"2020"},{"key":"e_1_2_13_4_1","unstructured":"EllardS BapleEL CallawayA et al.ACGS Best Practice Guidelines for Variant Classification in Rare Disease. 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