| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Intellectual disability syndromic and non-syndromic v0.4217 | KIAA0556 | Zornitza Stark Marked gene: KIAA0556 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4217 | KIAA0556 | Zornitza Stark Gene: kiaa0556 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4217 | KIAA0556 | Zornitza Stark Classified gene: KIAA0556 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4217 | KIAA0556 | Zornitza Stark Gene: kiaa0556 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4213 | KIAA0556 |
Paul De Fazio gene: KIAA0556 was added gene: KIAA0556 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0556 were set to 26714646; 27245168 Phenotypes for gene: KIAA0556 were set to Joubert syndrome 26, MIM# 616784 Review for gene: KIAA0556 was set to GREEN gene: KIAA0556 was marked as current diagnostic Added comment: 5 individuals from two families reported, supportive mouse model. Individuals were reported to have (global) developmental delay. New HGNC approved name is KATNIP. Sources: Literature |
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