| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Intellectual disability syndromic and non-syndromic v0.954 | PHIP | Zornitza Stark Marked gene: PHIP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.954 | PHIP | Zornitza Stark Gene: phip has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.954 | PHIP | Zornitza Stark Classified gene: PHIP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.954 | PHIP | Zornitza Stark Gene: phip has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.953 | PHIP |
Zornitza Stark gene: PHIP was added gene: PHIP was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PHIP were set to 29209020; 27900362; 23033978 Phenotypes for gene: PHIP were set to Chung-Jansen syndrome, MIM#617991 Review for gene: PHIP was set to GREEN Added comment: Recent large case series describing 20 individuals; variable expressivity, some inherited from mildly affected parents, most de novo. Sources: Expert list |
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