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| Genetic Epilepsy v2.0 | DEAF1 | Gene migrated from ENSG00000177030 to ENSG00000177030 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.225 | DEAF1 | chirag patel Phenotypes for gene: DEAF1 were changed from Dyskinesia, seizures, and intellectual developmental disorder 617171; autosomal dominant mental retardation 24, MIM# 615828 to Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171; Vulto-van Silfout-de Vries syndrome 615828 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.234 | DEAF1 | Zornitza Stark Marked gene: DEAF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.234 | DEAF1 | Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.234 | DEAF1 | Zornitza Stark Mode of inheritance for gene: DEAF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.233 | DEAF1 | Zornitza Stark Mode of inheritance for gene: DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.232 | DEAF1 | Zornitza Stark Marked gene: DEAF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.232 | DEAF1 | Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.232 | DEAF1 | Zornitza Stark Classified gene: DEAF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.232 | DEAF1 | Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.231 | DEAF1 |
Zornitza Stark gene: DEAF1 was added gene: DEAF1 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DEAF1 were set to 30923367; 26048982; 28940898; 26834045 Phenotypes for gene: DEAF1 were set to Dyskinesia, seizures, and intellectual developmental disorder 617171; autosomal dominant mental retardation 24, MIM# 615828 Review for gene: DEAF1 was set to GREEN gene: DEAF1 was marked as current diagnostic Added comment: Seizures are reported in 70-80% individuals with both the mono-allelic and the bi-allelic DEAF1-related conditions. Sources: Expert list |
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