Congenital fibrosis of the extraocular muscles
Gene: TUBB2BEnsemblGeneIds (GRCh38): ENSG00000137285
EnsemblGeneIds (GRCh37): ENSG00000137285
OMIM: 612850, Gene2Phenotype
TUBB2B is in 13 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment 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
Morag Shanks (Oxford Medical Genetics laboratory)
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
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Wessex and West Midlands GLH
- Phenotypes
-
- congenital fibrosis of extraocular muscles, MONDO:0007614
- OMIM
- 612850
- Clinvar variants
- Variants in TUBB2B
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Congenital fibrosis of the extraocular muscles
- Early onset or syndromic epilepsy
- Cerebellar hypoplasia
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Inherited white matter disorders
- Cerebral vascular malformations
- Malformations of cortical development
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: TUBB2B were set to 23001566
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Added New Source, Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)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