| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Angelman Rett like syndromes v0.38 | GABBR2 | Zornitza Stark Marked gene: GABBR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.38 | GABBR2 | Zornitza Stark Gene: gabbr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.38 | GABBR2 | Zornitza Stark Classified gene: GABBR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.38 | GABBR2 | Zornitza Stark Gene: gabbr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.37 | GABBR2 |
Zornitza Stark gene: GABBR2 was added gene: GABBR2 was added to Angelman Rett like syndromes. Sources: Expert list Mode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABBR2 were set to 28856709; 26740508; 29369404 Phenotypes for gene: GABBR2 were set to Neurodevelopmental disorder with poor language and loss of hand skills, MIM# 617903 Review for gene: GABBR2 was set to GREEN Added comment: NDPLHS is an autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. Additional features may include stereotypic movements, dystonia, gait abnormalities, sleep disturbances, and small hands and feet. The phenotype is reminiscent of Rett syndrome. At least 5 unrelated individuals reported. Sources: Expert list |
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