Congenital fibrosis of the extraocular muscles
Gene: TUBB2BComment on phenotypes: This gene is also associated with ortical dysplasia, complex, with other brain malformations 7Created: 3 Mar 2021, 4:14 p.m. | Last Modified: 3 Mar 2021, 4:14 p.m.
Panel Version: 1.10
Family segregating polymicrogyria with CFEOM (2 sibs and mother) - E421K variant. No other reportsCreated: 21 Mar 2019, 10:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fibrosis of extraocular muscles, congenital
Publications
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: LiteratureCreated: 16 Feb 2019, 1:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cortical dysplasia, complex, with other brain malformations 7
Publications
Publications for gene: TUBB2B were set to 23001566
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
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
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