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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.133 | TFAP2B | Eleanor Williams Classified gene: TFAP2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.133 | TFAP2B | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as 4 cases have been reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.133 | TFAP2B | Eleanor Williams Gene: tfap2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.132 | TFAP2B | Eleanor Williams Phenotypes for gene: TFAP2B were changed from to Char syndrome 169100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.131 | TFAP2B | Eleanor Williams Publications for gene: TFAP2B were set to 31405973 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.130 | TFAP2B |
Eleanor Williams commented on gene: TFAP2B: 4 cases reported There are 4 cases reported in PMID: 31292255 (Correction in PMID: 31405973) 2 de novo and 2 inherited. There is evidence for reduced penetrance as in one case the variant was inherited from an unaffected parent. |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.130 | TFAP2B |
Eleanor Williams commented on gene: TFAP2B: Review from Helen Lord (Oxford University Hospitals NHS Trust): Paper by Timberlake et al, 2019, PNAS, 116 (34) 17130 (PMID 31405973): 12 probands with syndromic craniosynostosis. Exome sequencing identified 4/12 TFAP2B variants – 3 of the patients had metopic synostosis and 1 had sagittal synostosis. 2 de novo (splicing and missense) and 2 rare transmitted LOF variants (nonsense variant (transmitted from an affected parent- looks like untreated metopic synostosis) and one affecting the initiating Met (transmitted from an unaffected parent)). They comment that heterozygous damaging variants have been implicated in CHAR syndrome, and abnormal head shapes and ridging over the cranial sutures have been reported in several patients. |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.130 | TFAP2B |
Eleanor Williams gene: TFAP2B was added gene: TFAP2B was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TFAP2B were set to 31405973 Added comment: Gene suggested for inclusion by Helen Lord. Sources: Expert Review |
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