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| Craniosynostosis v2.0 | IHH upstream regulatory region | Region IHH upstream regulatory region migrated (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v2.0 | IHH | Gene migrated from ENSG00000163501 to ENSG00000163501 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.86 | IHH upstream regulatory region | Sarah Milton Classified Region: IHH upstream regulatory region as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.86 | IHH upstream regulatory region | Sarah Milton Region: ihh upstream regulatory region has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.85 | IHH upstream regulatory region | Sarah Milton Tag regulatory region was added to Region: IHH upstream regulatory region. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.76 | Sarah Milton Copied Region IHH upstream regulatory region from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.76 | IHH upstream regulatory region |
Sarah Milton Region: IHH upstream regulatory region was added Region: IHH upstream regulatory region was added to Craniosynostosis. Sources: Literature Mode of inheritance for Region: IHH upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: IHH upstream regulatory region were set to PMID: 21167467 Phenotypes for Region: IHH upstream regulatory region were set to Craniosynostosis, Philadelphia type, with syndactyly, MIM#185900; Syndactyly, type 1, MIM#185900 |
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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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