Congenital ophthalmoplegia
Gene: TUBB3EnsemblGeneIds (GRCh38): ENSG00000258947
EnsemblGeneIds (GRCh37): ENSG00000258947
OMIM: 602661, Gene2Phenotype
TUBB3 is in 11 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
CFEOM MIM#600638: 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.
Note Cortical dysplasia, complex, with other brain malformations 1, MIM#602661 is an allelic disorder, in which the extra ocular muscles are not involved. Unclear whether the two disorders are distinct or part of a phenotypic spectrum.Created: 28 Oct 2020, 9:15 p.m. | Last Modified: 28 Oct 2020, 9:15 p.m.
Panel Version: 0.0
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fibrosis of extraocular muscles, congenital, 3A, MIM# 600638
Shannon LeBlanc (Victorian Clinical Genetics Services)
multiple missense variants reported in > 3 unrelated pedigrees with CFEOM. Supported by in vitro functional expression studies (Tischfield et al, 2010 PMID 20074521)Created: 28 Oct 2020, 12:13 p.m. | Last Modified: 28 Oct 2020, 12:13 p.m.
Panel Version: 0.0
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fibrosis of extraocular muscles, congenital, 3A 600638; Cortical dysplasia, complex, with other brain malformations 1, 602661
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Fibrosis of extraocular muscles, congenital, 3A 600638
- CFEOM3A
- OMIM
- 602661
- Clinvar variants
- Variants in TUBB3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tubb3 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TUBB3 were set to 27428177; 20074521
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TUBB3 was added gene: TUBB3 was added to Congenital fibrosis of the extraocular muscles. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB3 were set to 27428177; 20074521 Phenotypes for gene: TUBB3 were set to Fibrosis of extraocular muscles, congenital, 3A 600638; CFEOM3A