Congenital fibrosis of the extraocular muscles
Gene: TUBB3
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
Sources: LiteratureCreated: 16 Feb 2019, 1:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CFEOM3A
Phenotypes for gene: TUBB3 were changed from CFEOM3A; Fibrosis of extraocular muscles, congenital, 3A 600638 to Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638
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)
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