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| Ataxia and cerebellar anomalies - narrow panel v3.21 | TUBB2B | Arina Puzriakova Phenotypes for gene: TUBB2B were changed from complex cortical dysplasia with other brain malformations-7 , 610031 to Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.44 | TUBB4A | Louise Daugherty Phenotypes for gene: TUBB4A were changed from Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101 to Leukodystrophy, hypomyelinating, 6, 612438; Dystonia 4, torsion, autosomal dominant, 128101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.43 | TUBB4A | Louise Daugherty Publications for gene: TUBB4A were set to PMID: 25497598 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.42 | TUBB4A | Louise Daugherty Phenotypes for gene: TUBB4A were changed from Implicated autosomal dominant variants in two families with ataxia; Torsion dystonia 4 (128101) - some individuals with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported. to Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.5 | TUBB3 |
Ellen McDonagh gene: TUBB3 was added gene: TUBB3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB3 were set to 20829227 Phenotypes for gene: TUBB3 were set to Cortical dysplasia, complex, with other brain malformations 1 614039 |
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| Ataxia and cerebellar anomalies - narrow panel v0.5 | TUBB2B |
Ellen McDonagh gene: TUBB2B was added gene: TUBB2B was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB2B were set to 19465910 Phenotypes for gene: TUBB2B were set to complex cortical dysplasia with other brain malformations-7 , 610031 |
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| Ataxia and cerebellar anomalies - narrow panel v0.5 | TUBB |
Ellen McDonagh gene: TUBB was added gene: TUBB was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB were set to 23246003, 27010057 Phenotypes for gene: TUBB were set to Cortical dysplasia, complex, with other brain malformations 6, 615771 |
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| Ataxia and cerebellar anomalies - narrow panel v0.5 | TUBB4A |
Ellen McDonagh gene: TUBB4A was added gene: TUBB4A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB4A were set to PMID: 25497598 Phenotypes for gene: TUBB4A were set to Implicated autosomal dominant variants in two families with ataxia; Torsion dystonia 4 (128101) - some individuals with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported. Mode of pathogenicity for gene: TUBB4A was set to Other - please provide details in the comments |
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