| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.129 | ESCO2 | Eleanor Williams Publications for gene: ESCO2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.128 | ESCO2 | Eleanor Williams Classified gene: ESCO2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.128 | ESCO2 | Eleanor Williams Added comment: Comment on list classification: Changing the rating from red to amber. 2 published cases plus one seen in a clinic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.128 | ESCO2 | Eleanor Williams Gene: esco2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.127 | ESCO2 |
Eleanor Williams edited their review of gene: ESCO2: Added comment: Review from Helen Lord: PMID: 31192177 - Colombo et al 2019 - 2 unrelated children – one Turkish and one Iranian, both patients had craniosynostosis as part of their phenotype. WES on these two trios identified two different homozygous inactivating variants (one splicing and 1 frameshift) in the ESCO2 gene. Personal communication from Professor Wilkie – seen a case personally (unpublished evidence) Also PMID: 19574259 - Vega et al 2010 - provide clinical data for 31 patients from 26 families with proven ESCO2 mutations and combine this series with previously reported clinical and mutation data on 18 cases. Craniosynostosis is NOT mentioned directly in this paper.; Changed publications: 31192177 |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 | ESCO2 | Eleanor Williams Added phenotypes Roberts syndrome; SC phocomelia syndrome for gene: ESCO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | ESCO2 | Tracy Lester reviewed gene: ESCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Roberts syndrome, SC phocomelia syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | ESCO2 | Eleanor Williams reviewed gene: ESCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | ESCO2 | Eleanor Williams Source NHS GMS was added to ESCO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||