| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Angelman Rett like syndromes v1.13 | DYRK1A | Zornitza Stark Marked gene: DYRK1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v1.13 | DYRK1A | Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v1.13 | DYRK1A | Chirag Patel Classified gene: DYRK1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v1.13 | DYRK1A | Chirag Patel Gene: dyrk1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v1.13 | DYRK1A | Chirag Patel Classified gene: DYRK1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v1.13 | DYRK1A | Chirag Patel Gene: dyrk1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v1.12 | DYRK1A |
Chirag Patel gene: DYRK1A was added gene: DYRK1A was added to Angelman Rett like syndromes. Sources: Expert list Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYRK1A were set to PMID: 26677511 Phenotypes for gene: DYRK1A were set to DYRK1A-related intellectual disability syndrome MONDO:0013578 Review for gene: DYRK1A was set to GREEN Added comment: Established gene-disease association. Presentation overlaps Angelman-Rett like syndromes with: intellectual disability, autism spectrum disorder, stereotypic behaviour problems, microcephaly, epilepsy, hypertonia, gait disturbances, feeding problems, short stature, ophthalmologic anomalies, urogenital anomalies, cardiac anomalies, dental anomalies, foot anomalies, and typical facial gestalt. Sources: Expert list |
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