| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Macrocephaly_Megalencephaly v0.33 | GATAD2B | Zornitza Stark Marked gene: GATAD2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.33 | GATAD2B | Zornitza Stark Gene: gatad2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.33 | GATAD2B | Chirag Patel Classified gene: GATAD2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.33 | GATAD2B | Chirag Patel Gene: gatad2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.32 | GATAD2B |
Chirag Patel gene: GATAD2B was added gene: GATAD2B was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATAD2B were set to PMID: 31949314 Phenotypes for gene: GATAD2B were set to Mental retardation, autosomal dominant 18, OMIM # 615074 Review for gene: GATAD2B was set to GREEN Added comment: 50 patients reported in series in 2020: - loss-of-function and missense variants - clinical features of hypotonia, intellectual disability, strabismus, cardiac defects, characteristic facies, childhood apraxia of speech, and macrocephaly. Sources: Literature |
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