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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.172 | SLC25A24 | Sarah Leigh Publications for gene: SLC25A24 were set to 29100094; 29100093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.171 | SLC25A24 | Sarah Leigh Phenotypes for gene: SLC25A24 were changed from Fontaine progeroid syndrome 612289; Gorlin-Chaudhry-Moss to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.94 | SLC25A24 | Eleanor Williams Classified gene: SLC25A24 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.94 | SLC25A24 | Eleanor Williams Added comment: Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. . > 3 cases but same variant in 4 cases and same codon in all, likely because activating mutation rather than founder effect. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.94 | SLC25A24 | Eleanor Williams Gene: slc25a24 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.93 | SLC25A24 | Eleanor Williams Mode of inheritance for gene: SLC25A24 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 | SLC25A24 | Eleanor Williams Added phenotypes Fontaine progeroid syndrome 612289; Gorlin-Chaudhry-Moss for gene: SLC25A24 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.64 | SLC25A24 |
Eleanor Williams Added comment: Comment on publications: Writzl et al 2017 PMID: 29100094 Ehmke et al 2017 PMID: 29100093 |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.64 | SLC25A24 | Eleanor Williams Publications for gene: SLC25A24 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | SLC25A24 | Tracy Lester reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fontaine progeroid syndrome -612289, Gorlin-Chaudhry-Moss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | SLC25A24 | Eleanor Williams reviewed gene: SLC25A24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | SLC25A24 |
Eleanor Williams gene: SLC25A24 was added gene: SLC25A24 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: SLC25A24 was set to |
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