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| Craniosynostosis v1.60 | ARID1B | Zornitza Stark Marked gene: ARID1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.60 | ARID1B | Zornitza Stark Gene: arid1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.60 | ARID1B | Zornitza Stark Classified gene: ARID1B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.60 | ARID1B | Zornitza Stark Gene: arid1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.56 | ARID1B |
Yetong Chen gene: ARID1B was added gene: ARID1B was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARID1B were set to 36118902; 34429528; 27474218; 32530565 Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome 1, MIM# 135900 Review for gene: ARID1B was set to GREEN Added comment: A total of 4 unrelated individuals are reported. PMID 36118902 reports a patient with an ARID1B variant (chr6:g.157431670_157431676 delCCAGTCA) who presented with sagittal craniosynostosis. PMID 34429528 identifies a patient (case 16) with an ARID1B variant (c.3594delinsCCCCCA) by screening 127 families classified with craniosynostosis. PMID 27474218 reported a patient (patient 10) with an ARID1B variant (c.1468_1472delTGGGC) who presented with craniosynostosis. PMID 32530565 listed a patient (OKI-047-1 M) harbouring an ARID1B variant (c.2277delC) who had trigonocephaly. Sources: Expert Review |
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