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| Intellectual disability syndromic and non-syndromic v2.93 | TUBB3 | Zornitza Stark Phenotypes for gene: TUBB3 were changed from complex cortical dysplasia with other brain malformations 1 MONDO:0013541; Congenital fibrosis of extraocular muscles 3A, syndromic 1, with anosmia and developmental delay MIM#621655 Congenital fibrosis of extraocular muscles 3A2, syndromic, with joint contractures, developmental delay, and peripheral neuropathy, MIM#621666 to complex cortical dysplasia with other brain malformations 1 MONDO:0013541; Congenital fibrosis of extraocular muscles 3A, syndromic 1, with anosmia and developmental delay; MIM#621655 Congenital fibrosis of extraocular muscles 3A2, syndromic, with joint contractures, developmental delay, and peripheral neuropathy, MIM#621666 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.92 | TUBB3 | Zornitza Stark edited their review of gene: TUBB3: Changed phenotypes: Congenital fibrosis of extraocular muscles 3A, syndromic 1, with anosmia and developmental delay MIM#621655, Congenital fibrosis of extraocular muscles 3A2, syndromic, with joint contractures, developmental delay, and peripheral neuropathy, MIM#621666 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.92 | TUBB3 | Zornitza Stark Phenotypes for gene: TUBB3 were changed from complex cortical dysplasia with other brain malformations 1 MONDO:0013541 to complex cortical dysplasia with other brain malformations 1 MONDO:0013541; Congenital fibrosis of extraocular muscles 3A, syndromic 1, with anosmia and developmental delay MIM#621655 Congenital fibrosis of extraocular muscles 3A2, syndromic, with joint contractures, developmental delay, and peripheral neuropathy, MIM#621666 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.91 | TUBB3 |
Zornitza Stark commented on gene: TUBB3: CFEOM: multiple families reported, some affected individuals show additional features, including developmental delay or learning disabilities associated with dysgenesis of the corpus callosum. Other variable features include facial weakness and peripheral axonal neuropathy, sometimes associated with wrist and finger contractures. OMIM have split into three disorders. Complex cortical dysplasia with other brain malformations (CDCBM), MIM#614039 is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe DD/ID, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Unclear if the four disorders are distinct or part of a spectrum of TUBB3-associated abnormalities. |
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| Intellectual disability syndromic and non-syndromic v2.91 | TUBB3 | Zornitza Stark reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital fibrosis of extraocular muscles 3A, syndromic 1, with anosmia and developmental delay MIM#621655 Congenital fibrosis of extraocular muscles 3A2, syndromic, with joint contractures, developmental delay, and peripheral neuropathy, MIM#621666; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.0 | TUBB3 | Gene migrated from ENSG00000258947 to ENSG00000258947 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5472 | TUBB3 | Zornitza Stark Marked gene: TUBB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5472 | TUBB3 | Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5472 | TUBB3 | Zornitza Stark Phenotypes for gene: TUBB3 were changed from to complex cortical dysplasia with other brain malformations 1 MONDO:0013541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5471 | TUBB3 | Zornitza Stark Publications for gene: TUBB3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5470 | TUBB3 | Zornitza Stark Mode of inheritance for gene: TUBB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5399 | TUBB3 | Kaitlyn Dianna Weldon reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20829227; Phenotypes: complex cortical dysplasia with other brain malformations 1 MONDO:0013541; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | TUBB3 |
Zornitza Stark gene: TUBB3 was added gene: TUBB3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBB3 was set to Unknown |
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