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Existing literature describes congenital heart disease as a common recognized phenotype of <jats:italic>TAB2<\/jats:italic> gene variants, with evidence of a distinct syndromic phenotype also existing beyond this. Here we describe 14 newly identified individuals with nine novel, pathogenic <jats:italic>TAB2<\/jats:italic> variants. The majority of individuals were identified through the Deciphering Developmental Disorders study through trio whole exome sequencing. Eight individuals had <jats:italic>de novo<\/jats:italic> variants, the other six individuals were found to have maternally inherited, or likely maternally inherited, variants. Five individuals from the same family were identified following cardiac disease gene panel in the proband and subsequent targeted familial gene sequencing. The clinical features of this cohort were compared to the existing literature. Common clinical features include distinctive facial features, growth abnormalities, joint hypermobility, hypotonia, and developmental delay. Newly identified features included feeding difficulties, sleep problems, visual problems, genitourinary abnormality, and other anatomical variations. Here we report 14 new individuals, including novel <jats:italic>TAB2<\/jats:italic> variants, in order to expand the emerging syndromic clinical phenotype and provide further genotype\u2013phenotype correlation.<\/jats:p>","DOI":"10.1002\/ajmg.a.62949","type":"journal-article","created":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T07:55:10Z","timestamp":1660636510000},"page":"3331-3342","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Expanding the phenotype of <scp><i>TAB2<\/i><\/scp> variants and literature review"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2349-2688","authenticated-orcid":false,"given":"Emily","family":"Woods","sequence":"first","affiliation":[{"name":"Department of Paediatrics Sheffield Children's Hospital NHS Foundation Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7441-831X","authenticated-orcid":false,"given":"Imogen","family":"Marson","sequence":"additional","affiliation":[{"name":"Medical School University of Sheffield  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele","family":"Coci","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Prignitz Hospital, Brandenburg Medical School  Prignitz Germany"},{"name":"Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Spiller","sequence":"additional","affiliation":[{"name":"Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajith","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Great Ormond Street Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Brady","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service Northwick Park Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tessa","family":"Homfray","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service St George's Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Fisher","sequence":"additional","affiliation":[{"name":"Northern Genetics Service Newcastle University Hospital NHS Trust  Newcastle UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Turnpenny","sequence":"additional","affiliation":[{"name":"Peninsula Clinical Genetics Service Royal Devon and Exeter NHS Trust  Exeter UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Rankin","sequence":"additional","affiliation":[{"name":"Peninsula Clinical Genetics Service Royal Devon and Exeter NHS Trust  Exeter UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4388-0290","authenticated-orcid":false,"given":"Farah","family":"Kanani","sequence":"additional","affiliation":[{"name":"Sheffield Clinical Genetics Service Sheffield Children's NHS Foundation Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konrad","family":"Platzer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Leipzig Medical Center  Leipzig Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athina","family":"Ververi","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Great Ormond Street Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleftheria","family":"Emmanouilidou","sequence":"additional","affiliation":[{"name":"Department of Paediatrics General Hospital of Kavala  Kavala Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nourxan","family":"Bourboun","sequence":"additional","affiliation":[{"name":"Cardiology Department AHEPA University Hospital, Aristotle University of Thessaloniki  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7491-6319","authenticated-orcid":false,"given":"George","family":"Giannakoulas","sequence":"additional","affiliation":[{"name":"Cardiology Department AHEPA University Hospital, Aristotle University of Thessaloniki  Thessaloniki Greece"}],"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 NHS Foundation Trust  Sheffield UK"},{"name":"Department of Oncology &amp; 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