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| Craniosynostosis v1.45 | ADAMTSL4 | Zornitza Stark Phenotypes for gene: ADAMTSL4 were changed from Ectopia lentis et pupillae MIM#225200 to Ectopia lentis et pupillae MIM#225200; Craniosynostosis with ectopia lentis MONDO#0011347, ADAMTSL4-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.44 | ADAMTSL4 | Zornitza Stark Publications for gene: ADAMTSL4 were set to 22871183; 20702823 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.43 | ADAMTSL4 | Zornitza Stark Classified gene: ADAMTSL4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.43 | ADAMTSL4 | Zornitza Stark Gene: adamtsl4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.42 | ADAMTSL4 | Michelle Torres reviewed gene: ADAMTSL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35378950, 28642162; Phenotypes: Craniosynostosis with ectopia lentis MONDO#0011347, ADAMTSL4-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.136 | ADAMTSL4 | Zornitza Stark Marked gene: ADAMTSL4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.136 | ADAMTSL4 | Zornitza Stark Gene: adamtsl4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.136 | ADAMTSL4 |
Bryony Thompson gene: ADAMTSL4 was added gene: ADAMTSL4 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTSL4 were set to 22871183; 20702823 Phenotypes for gene: ADAMTSL4 were set to Ectopia lentis et pupillae MIM#225200 Review for gene: ADAMTSL4 was set to RED Added comment: Two cases with craniosynostosis and the same 20 bp deletion have been repeated, but cases with the same variant in the same family have been reported with ectopia lentis only. Sources: Literature |
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