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Congenital fibrosis of the extraocular muscles v1.7 TUBB3 Ivone Leong Phenotypes for gene: TUBB3 were changed from CFEOM3A; Fibrosis of extraocular muscles, congenital, 3A 600638 to Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638
Congenital fibrosis of the extraocular muscles v0.8 TUBB3 Morag Shanks reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20074521, 27428177; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A 600638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital fibrosis of the extraocular muscles v0.7 TUBB3 Ivone Leong 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)
Congenital fibrosis of the extraocular muscles v0.2 TUBB3 Anna de Burca 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
Added comment: Sources: Literature