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| Genetic Epilepsy v0.2792 | TUBB4A | Zornitza Stark Marked gene: TUBB4A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2792 | TUBB4A | Zornitza Stark Gene: tubb4a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2792 | TUBB4A | Zornitza Stark Phenotypes for gene: TUBB4A were changed from to Leukodystrophy, hypomyelinating, 6, OMIM # 612438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2791 | TUBB4A | Zornitza Stark Publications for gene: TUBB4A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2790 | TUBB4A | Zornitza Stark Mode of inheritance for gene: TUBB4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2789 | TUBB4A | Zornitza Stark edited their review of gene: TUBB4A: Changed phenotypes: Leukodystrophy, hypomyelinating, 6, OMIM # 612438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2789 | TUBB4A |
Zornitza Stark changed review comment from: Dystonia-4, also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait. At least 8 unrelated families reported. Leukodystrophy: multiple individuals reported, onset of symptoms is typically in infancy and early childhood.; to: Leukodystrophy: multiple individuals reported, onset of symptoms is typically in infancy and early childhood. Seizures are part of the phenotype. |
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| Genetic Epilepsy v0.0 | TUBB4A |
Zornitza Stark gene: TUBB4A was added gene: TUBB4A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TUBB4A was set to Unknown |
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