Congenital fibrosis of the extraocular muscles
Gene: TUBB3EnsemblGeneIds (GRCh38): ENSG00000258947
EnsemblGeneIds (GRCh37): ENSG00000258947
OMIM: 602661, Gene2Phenotype
TUBB3 is in 13 panels
2 reviews
Morag Shanks (Oxford Medical Genetics laboratory)
Multiple variants in more than 3 non-related pedigreesCreated: 21 Mar 2019, 10:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fibrosis of extraocular muscles, congenital, 3A 600638
Publications
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Sources: LiteratureCreated: 16 Feb 2019, 1:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CFEOM3A
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Wessex and West Midlands GLH
- Phenotypes
-
- Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638
- OMIM
- 602661
- Clinvar variants
- Variants in TUBB3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Cerebral vascular malformations
- Malformations of cortical development
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Congenital fibrosis of the extraocular muscles
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Intellectual disability
- Cerebellar hypoplasia
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TUBB3 were changed from CFEOM3A; Fibrosis of extraocular muscles, congenital, 3A 600638 to Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638
Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update
Ivone Leong (Genomics England Curator)Source Wessex and West Midlands GLH was added to TUBB3. Source Expert Review Green was added to TUBB3. Added phenotypes Fibrosis of extraocular muscles, congenital, 3A 600638 for gene: TUBB3 Publications for gene TUBB3 were changed from to 20074521; 27428177 Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)gene: TUBB3 was added gene: TUBB3 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TUBB3 were set to CFEOM3A Review for gene: TUBB3 was set to AMBER