| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Intellectual disability syndromic and non-syndromic v0.1653 | DHDDS | Zornitza Stark Marked gene: DHDDS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1653 | DHDDS | Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1653 | DHDDS | Zornitza Stark Classified gene: DHDDS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1653 | DHDDS | Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1652 | DHDDS |
Zornitza Stark gene: DHDDS was added gene: DHDDS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DHDDS were set to 29100083 Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, MIM#617836 Review for gene: DHDDS was set to GREEN gene: DHDDS was marked as current diagnostic Added comment: Five unrelated individuals reported with mono-allelic variants and a neurodevelopmental phenotype. Sources: Expert list |
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