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| Congenital fibrosis of the extraocular muscles v1.11 | TUBB2B | Ivone Leong Publications for gene: TUBB2B were set to 23001566 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.10 | TUBB2B | Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with ortical dysplasia, complex, with other brain malformations 7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.10 | TUBB2B | Ivone Leong Phenotypes for gene: TUBB2B were changed from Cortical dysplasia, complex, with other brain malformations 7; Fibrosis of extraocular muscles, congenital to congenital fibrosis of extraocular muscles, MONDO:0007614 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v0.8 | TUBB2B | Morag Shanks reviewed gene: TUBB2B: Rating: RED; Mode of pathogenicity: ; Publications: 23001566; Phenotypes: Fibrosis of extraocular muscles, congenital; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v0.7 | TUBB2B |
Ivone Leong Source Wessex and West Midlands GLH was added to TUBB2B. Source Expert Review Red was added to TUBB2B. Added phenotypes Fibrosis of extraocular muscles, congenital for gene: TUBB2B Publications for gene TUBB2B were changed from 11425694; 23001566 to 23001566 |
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| Congenital fibrosis of the extraocular muscles v0.3 | TUBB2B |
Anna de Burca gene: TUBB2B was added gene: TUBB2B was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB2B were set to 11425694; 23001566 Phenotypes for gene: TUBB2B were set to Cortical dysplasia, complex, with other brain malformations 7 Review for gene: TUBB2B was set to AMBER Added comment: The association between TUBB2B and polymicrogyria is well documented but in addition PIMD:11425694 and 23001566 report the same two generation family where the mother and two daughters have polymicrogyria, intellectual disability and CFEOM. A missense variant in TUBB2B was present in the mother and two affected daughters and absent in the father and two unaffected siblings. In vitro functional studies showed altered microtubule dynamics. Sources: Literature |
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