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Craniosynostosis v1.78 ADNP Zornitza Stark Marked gene: ADNP as ready
Craniosynostosis v1.78 ADNP Zornitza Stark Gene: adnp has been classified as Green List (High Evidence).
Craniosynostosis v1.78 ADNP Zornitza Stark Classified gene: ADNP as Green List (high evidence)
Craniosynostosis v1.78 ADNP Zornitza Stark Gene: adnp has been classified as Green List (High Evidence).
Craniosynostosis v1.77 ADNP Zornitza Stark gene: ADNP was added
gene: ADNP was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADNP were set to 37086723
Phenotypes for gene: ADNP were set to Helsmoortel-van der Aa syndrome MIM#615873
Review for gene: ADNP was set to GREEN
Added comment: PMID 37086723 reports 3 individuals from 3 unrelated families with heterozygous de novo loss-of-function ADNP variants presenting with syndromic craniosynostosis (sagittal or metopic) of congenital onset.
Sources: Literature