This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS. Tubulinopathies refer to a wide spectrum of cortical malformations that result from defects in genes encoding the tubulin protein that regulates neuronal migration during brain development. Brain malformations include: -A range of lissencephalies (classic lissencephaly, lissencephaly with cerebellar hypoplasia, lissencephaly with agenesis of the corpus callosum, and centrally predominant pachygyria), -Polymicrogyria-like cortical dysplasia, -Simplified gyral pattern, and -Microlissencephaly often in combination with dysplastic basal ganglia, corpus callosum abnormalities, and hypoplasia or dysplasia of the brain stem and cerebellum. Clinical features include motor and intellectual disabilities, epilepsy, and ocular findings of varying severity. Where imaging and clinical features are less specific, consider applying the Malformations of Cortical Development superpanel.
Paul De Fazio (Victorian Clinical Genetics Services)
Mark Cleghorn (Royal Melbourne Hospital)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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9 Entitiess
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TUBA1A |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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TUBB |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
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TUBB2A |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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Phenotypes
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TUBB2B |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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Phenotypes
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TUBB3 |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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Phenotypes
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TUBG1 |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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Phenotypes
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TTL |
1 review |
BIALLELIC, autosomal or pseudoautosomal |
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Phenotypes
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TUBA8 |
1 review1 red |
BIALLELIC, autosomal or pseudoautosomal |
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Phenotypes
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TUBGCP4 |
1 review1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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2021-01-16 10:10 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1.