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| 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 Added comment: Comment on phenotypes: Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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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