| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Craniosynostosis v0.14 | ALX4 | Zornitza Stark Marked gene: ALX4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.14 | ALX4 | Zornitza Stark Gene: alx4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.5 | ALX4 | Bryony Thompson Classified gene: ALX4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.5 | ALX4 | Bryony Thompson Gene: alx4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.4 | ALX4 |
Bryony Thompson gene: ALX4 was added gene: ALX4 was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ALX4 were set to 19692347; 29215649; 22829454 Phenotypes for gene: ALX4 were set to Frontonasal dysplasia 2 MIM#613451; Parietal foramina 2 MIM#609597 Review for gene: ALX4 was set to GREEN Added comment: Craniosynostosis has been reported in 2 cases with monoallelic likely LoF variants and as a feature of a syndromic condition in 2 consanguineous families with homozygous LoF variants. 2 putative gain of function missense variants were identified in 2 probands with non-syndromic craniosynostosis, but were also identified in unaffected parents. Sources: Expert list |
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