| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ciliopathies v0.278 | INTU | Zornitza Stark Marked gene: INTU as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.278 | INTU | Zornitza Stark Gene: intu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.278 | INTU | Zornitza Stark Classified gene: INTU as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.278 | INTU | Zornitza Stark Gene: intu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.277 | INTU |
Elena Savva gene: INTU was added gene: INTU was added to Ciliopathies. Sources: Literature Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTU were set to PMID: 27158779; 29451301; 20067783 Phenotypes for gene: INTU were set to ?Orofaciodigital syndrome XVII MIM#617926; ?Short-rib thoracic dysplasia 20 with polydactyly MIM#617925 Review for gene: INTU was set to GREEN Added comment: PMID: 27158779 - 1 hom (PTC) and 1 chet (PTC/missense) patient with OFD or Short-rib thoracic dysplasia PMID: 20067783 - null mouse model exhibits severe polydactyly, lethal midgestation, exhibiting multiple defects including neural tube closure defects, abnormal dorsal/ventral patterning of the central nervous system PMID: 29451301 - 1 chet patient (missense/CNV) with OFD and polydactyly Sources: Literature |
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