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| Craniosynostosis v0.104 | IHH | Zornitza Stark Marked gene: IHH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.104 | IHH | Zornitza Stark Gene: ihh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.104 | IHH | Zornitza Stark Classified gene: IHH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.104 | IHH | Zornitza Stark Gene: ihh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.103 | IHH |
Zornitza Stark gene: IHH was added gene: IHH was added to Craniosynostosis. Sources: Expert list SV/CNV, 5'UTR tags were added to gene: IHH. Mode of inheritance for gene: IHH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IHH were set to Craniosynostosis, Philadelphia type Mode of pathogenicity for gene: IHH was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: IHH was set to GREEN Added comment: Green for promoter region 40kb upstream of IHH only. Duplications of 2q35-q36.3 encompassing region 40kb upstream of IHH (within intron of NHEJ1 gene) cause craniosynostosis. Please note SNVs in this gene cause a different phenotype. Sources: Expert list |
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