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  2. Congenital ophthalmoplegia
  3. TUBB2B
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Congenital ophthalmoplegia

Gene: TUBB2B

Red List (low evidence)
TUBB2B (tubulin beta 2B class IIb)
EnsemblGeneIds (GRCh38): ENSG00000137285
EnsemblGeneIds (GRCh37): ENSG00000137285
OMIM: 612850, Gene2Phenotype
TUBB2B is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported.
Created: 2 Nov 2020, 7:56 p.m. | Last Modified: 2 Nov 2020, 7:56 p.m.
Panel Version: 0.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 2 Nov 2020, 7:56 p.m.
Last Modified: 2 Nov 2020, 7:56 p.m.
Panel version: 0.8

Shannon LeBlanc (Victorian Clinical Genetics Services)

I don't know

Well documented association between TUBB2B and polymicrogyria. PMID 11425694 and 23001566 both report the same 2 generation family: an affected mother and two affected children with polymicrogyria, intellectual disability and CFEOM. The affected relatives have a missense variant in TUBB2B (absent in unaffected father and two unaffected sibs).
Created: 2 Nov 2020, 11:42 a.m. | Last Modified: 2 Nov 2020, 11:42 a.m.
Panel Version: 0.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cortical dysplasia, complex, with other brain malformations 7; Fibrosis of extraocular muscles, congenital

Publications

Created: 2 Nov 2020, 11:42 a.m.
Last Modified: 2 Nov 2020, 11:42 a.m.
Panel version: 0.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Fibrosis of extraocular muscles, congenital
  • Cortical dysplasia, complex, with other brain malformations 7
OMIM
612850
Clinvar variants
Variants in TUBB2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubb2b has been classified as Red List (Low Evidence).

2 Nov 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBB2B were set to 23001566

7 Oct 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBB2B was added gene: TUBB2B was added to Congenital fibrosis of the extraocular muscles. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB2B were set to 23001566 Phenotypes for gene: TUBB2B were set to Fibrosis of extraocular muscles, congenital; Cortical dysplasia, complex, with other brain malformations 7